This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database

GET /api/genes/CCDC141/variants/?format=api
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/vnd.api+json
Vary: Accept

{
    "data": [
        {
            "type": "SmallVariant",
            "id": "769",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0006,
                    "KGP_genomes_AFR_maf": 0.0,
                    "KGP_genomes_AMR_maf": 0.0,
                    "KGP_genomes_EAS_maf": 0.003,
                    "KGP_genomes_EUR_maf": 0.0,
                    "KGP_genomes_SAS_maf": 0.0,
                    "gnomad_maf": 6.399e-05,
                    "gnomad_AFR_maf": 6.26e-05,
                    "gnomad_AMR_maf": 0.0,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 0.0008182,
                    "gnomad_FIN_maf": 0.0,
                    "gnomad_NFE_maf": 0.0,
                    "gnomad_OTH_maf": 0.0,
                    "gnomad_SAS_maf": 0.0,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Deleterious",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": 3.286095,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179701727,
                "genomic_position_hg38": 178837000,
                "chromosome": "2",
                "annotation_flag": "manually_corrected",
                "lastmodified": "2023-06-06T16:57:45.104302",
                "ref_allele": "G",
                "alt_allele": "T",
                "cdna_change": "c.4219C>A",
                "protein_change": "p.Gln1407Lys",
                "transcript_id": "NM_173648.4",
                "dbsnp_id": "rs186697492",
                "variant_effect": "missense"
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI353"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/769/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/769/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/769/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/769/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/769/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "1417",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": null,
                    "KGP_genomes_AFR_maf": null,
                    "KGP_genomes_AMR_maf": null,
                    "KGP_genomes_EAS_maf": null,
                    "KGP_genomes_EUR_maf": null,
                    "KGP_genomes_SAS_maf": null,
                    "gnomad_maf": 1.198e-05,
                    "gnomad_AFR_maf": 0.0,
                    "gnomad_AMR_maf": 5.79e-05,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 0.0,
                    "gnomad_FIN_maf": 0.0,
                    "gnomad_NFE_maf": 8.851e-06,
                    "gnomad_OTH_maf": 0.0,
                    "gnomad_SAS_maf": 0.0,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Tolerated",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": -0.764513,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179702195,
                "genomic_position_hg38": 178837468,
                "chromosome": "2",
                "annotation_flag": "automatically_attributed_and_verified",
                "lastmodified": "2023-06-06T16:57:49.003770",
                "ref_allele": "C",
                "alt_allele": "A",
                "cdna_change": "c.3751G>T",
                "protein_change": "p.Val1251Leu",
                "transcript_id": "NM_173648.3",
                "dbsnp_id": "rs888332352",
                "variant_effect": "missense"
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI651"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1417/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1417/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1417/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1417/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/1417/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "2578",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0357,
                    "KGP_genomes_AFR_maf": 0.0023,
                    "KGP_genomes_AMR_maf": 0.0735,
                    "KGP_genomes_EAS_maf": 0.0,
                    "KGP_genomes_EUR_maf": 0.1014,
                    "KGP_genomes_SAS_maf": 0.0235,
                    "gnomad_maf": 0.06032,
                    "gnomad_AFR_maf": 0.01345,
                    "gnomad_AMR_maf": 0.04904,
                    "gnomad_ASJ_maf": 0.05217,
                    "gnomad_EAS_maf": 0.0001097,
                    "gnomad_FIN_maf": 0.07249,
                    "gnomad_NFE_maf": 0.08669,
                    "gnomad_OTH_maf": 0.07247,
                    "gnomad_SAS_maf": 0.02747,
                    "ESP_AA_maf": 0.02339,
                    "ESP_EA_maf": 0.09016
                },
                "predictions": {
                    "sift_prediction": "Deleterious",
                    "pp2_hvar_prediction": "Damaging",
                    "cadd_prediction": 3.514477,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179721046,
                "genomic_position_hg38": 178856319,
                "chromosome": "2",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:55.961189",
                "ref_allele": "G",
                "alt_allele": "A",
                "cdna_change": "c.2803C>T",
                "protein_change": "p.Arg935Trp",
                "transcript_id": null,
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1213"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2578/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2578/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2578/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2578/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/2578/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "2890",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0016,
                    "KGP_genomes_AFR_maf": 0.0,
                    "KGP_genomes_AMR_maf": 0.0043,
                    "KGP_genomes_EAS_maf": 0.0,
                    "KGP_genomes_EUR_maf": 0.004,
                    "KGP_genomes_SAS_maf": 0.001,
                    "gnomad_maf": 0.004465,
                    "gnomad_AFR_maf": 0.001322,
                    "gnomad_AMR_maf": 0.002284,
                    "gnomad_ASJ_maf": 0.009604,
                    "gnomad_EAS_maf": 9.513e-05,
                    "gnomad_FIN_maf": 0.003674,
                    "gnomad_NFE_maf": 0.007634,
                    "gnomad_OTH_maf": 0.005366,
                    "gnomad_SAS_maf": 0.0003113,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Tolerated",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": 2.436302,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179699124,
                "genomic_position_hg38": 178834397,
                "chromosome": "2",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:57.849825",
                "ref_allele": "C",
                "alt_allele": "T",
                "cdna_change": "c.4369G>A",
                "protein_change": "p.Val1457Ile",
                "transcript_id": null,
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1379"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2890/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2890/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2890/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2890/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/2890/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "2892",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": null,
                    "KGP_genomes_AFR_maf": null,
                    "KGP_genomes_AMR_maf": null,
                    "KGP_genomes_EAS_maf": null,
                    "KGP_genomes_EUR_maf": null,
                    "KGP_genomes_SAS_maf": null,
                    "gnomad_maf": null,
                    "gnomad_AFR_maf": null,
                    "gnomad_AMR_maf": null,
                    "gnomad_ASJ_maf": null,
                    "gnomad_EAS_maf": null,
                    "gnomad_FIN_maf": null,
                    "gnomad_NFE_maf": null,
                    "gnomad_OTH_maf": null,
                    "gnomad_SAS_maf": null,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Tolerated",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": 1.464993,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179912054,
                "genomic_position_hg38": 179047327,
                "chromosome": "2",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:57.861813",
                "ref_allele": "T",
                "alt_allele": "C",
                "cdna_change": "c.182A>G",
                "protein_change": "p.Lys61Arg",
                "transcript_id": null,
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1380"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2892/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2892/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2892/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2892/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/2892/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "2915",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0002,
                    "KGP_genomes_AFR_maf": 0.0,
                    "KGP_genomes_AMR_maf": 0.0,
                    "KGP_genomes_EAS_maf": 0.0,
                    "KGP_genomes_EUR_maf": 0.001,
                    "KGP_genomes_SAS_maf": 0.0,
                    "gnomad_maf": 0.001497,
                    "gnomad_AFR_maf": 0.0,
                    "gnomad_AMR_maf": 0.0001159,
                    "gnomad_ASJ_maf": 0.002581,
                    "gnomad_EAS_maf": 0.0,
                    "gnomad_FIN_maf": 0.007576,
                    "gnomad_NFE_maf": 0.001488,
                    "gnomad_OTH_maf": 0.002124,
                    "gnomad_SAS_maf": 0.0,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Tolerated",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": 2.349455,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179718301,
                "genomic_position_hg38": 178853574,
                "chromosome": "2",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:58.000929",
                "ref_allele": "T",
                "alt_allele": "A",
                "cdna_change": "c.3111A>T",
                "protein_change": "p.Lys1037Asn",
                "transcript_id": null,
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1389"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2915/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2915/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2915/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2915/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/2915/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "2922",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0022,
                    "KGP_genomes_AFR_maf": 0.0008,
                    "KGP_genomes_AMR_maf": 0.0058,
                    "KGP_genomes_EAS_maf": 0.0,
                    "KGP_genomes_EUR_maf": 0.005,
                    "KGP_genomes_SAS_maf": 0.001,
                    "gnomad_maf": 0.003484,
                    "gnomad_AFR_maf": 0.001118,
                    "gnomad_AMR_maf": 0.002846,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 0.0,
                    "gnomad_FIN_maf": 0.004451,
                    "gnomad_NFE_maf": 0.005715,
                    "gnomad_OTH_maf": 0.002946,
                    "gnomad_SAS_maf": 0.0008851,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Deleterious",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": 1.991564,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179751485,
                "genomic_position_hg38": 178886758,
                "chromosome": "2",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:58.043361",
                "ref_allele": "T",
                "alt_allele": "G",
                "cdna_change": "c.1521A>C",
                "protein_change": "p.Gln507His",
                "transcript_id": null,
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1392"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2922/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2922/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2922/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2922/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/2922/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "2950",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": null,
                    "KGP_genomes_AFR_maf": null,
                    "KGP_genomes_AMR_maf": null,
                    "KGP_genomes_EAS_maf": null,
                    "KGP_genomes_EUR_maf": null,
                    "KGP_genomes_SAS_maf": null,
                    "gnomad_maf": 7.976e-05,
                    "gnomad_AFR_maf": 0.0,
                    "gnomad_AMR_maf": 0.0,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 0.0,
                    "gnomad_FIN_maf": 0.000925,
                    "gnomad_NFE_maf": 0.0,
                    "gnomad_OTH_maf": 0.0,
                    "gnomad_SAS_maf": 0.0,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Tolerated",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": -1.01474,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179742788,
                "genomic_position_hg38": 178878061,
                "chromosome": "2",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:58.213088",
                "ref_allele": "T",
                "alt_allele": "A",
                "cdna_change": "c.1802A>T",
                "protein_change": "p.His601Leu",
                "transcript_id": null,
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1404"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2950/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2950/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2950/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2950/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/2950/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "3014",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": null,
                    "KGP_genomes_AFR_maf": null,
                    "KGP_genomes_AMR_maf": null,
                    "KGP_genomes_EAS_maf": null,
                    "KGP_genomes_EUR_maf": null,
                    "KGP_genomes_SAS_maf": null,
                    "gnomad_maf": 7.974e-06,
                    "gnomad_AFR_maf": 0.0,
                    "gnomad_AMR_maf": 0.0,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 0.0,
                    "gnomad_FIN_maf": 0.0,
                    "gnomad_NFE_maf": 1.765e-05,
                    "gnomad_OTH_maf": 0.0,
                    "gnomad_SAS_maf": 0.0,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Tolerated",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": 1.176414,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179701910,
                "genomic_position_hg38": 178837183,
                "chromosome": "2",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:58.604804",
                "ref_allele": "G",
                "alt_allele": "A",
                "cdna_change": "c.4036C>T",
                "protein_change": "p.Arg1346Trp",
                "transcript_id": null,
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1431"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3014/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3014/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3014/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3014/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/3014/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "3165",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": null,
                    "KGP_genomes_AFR_maf": null,
                    "KGP_genomes_AMR_maf": null,
                    "KGP_genomes_EAS_maf": null,
                    "KGP_genomes_EUR_maf": null,
                    "KGP_genomes_SAS_maf": null,
                    "gnomad_maf": 0.0001078,
                    "gnomad_AFR_maf": 0.0,
                    "gnomad_AMR_maf": 0.0001158,
                    "gnomad_ASJ_maf": 0.000199,
                    "gnomad_EAS_maf": 0.0,
                    "gnomad_FIN_maf": 0.0,
                    "gnomad_NFE_maf": 0.0001416,
                    "gnomad_OTH_maf": 0.0003274,
                    "gnomad_SAS_maf": 9.801e-05,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Tolerated",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": 1.770712,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179702164,
                "genomic_position_hg38": 178837437,
                "chromosome": "2",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:59.473496",
                "ref_allele": "G",
                "alt_allele": "A",
                "cdna_change": "c.3782C>T",
                "protein_change": "p.Ala1261Val",
                "transcript_id": "NM_173648",
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1511"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3165/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3165/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3165/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3165/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/3165/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "3167",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": null,
                    "KGP_genomes_AFR_maf": null,
                    "KGP_genomes_AMR_maf": null,
                    "KGP_genomes_EAS_maf": null,
                    "KGP_genomes_EUR_maf": null,
                    "KGP_genomes_SAS_maf": null,
                    "gnomad_maf": 0.0001855,
                    "gnomad_AFR_maf": 0.0,
                    "gnomad_AMR_maf": 4.076e-05,
                    "gnomad_ASJ_maf": 0.001189,
                    "gnomad_EAS_maf": 9.282e-05,
                    "gnomad_FIN_maf": 0.0,
                    "gnomad_NFE_maf": 5.338e-05,
                    "gnomad_OTH_maf": 0.0,
                    "gnomad_SAS_maf": 0.0005798,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Deleterious",
                    "pp2_hvar_prediction": "Possibly Damaging",
                    "cadd_prediction": 3.801929,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179770190,
                "genomic_position_hg38": 178905463,
                "chromosome": "2",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:59.485296",
                "ref_allele": "C",
                "alt_allele": "A",
                "cdna_change": "c.1131G>T",
                "protein_change": "p.Lys377Asn",
                "transcript_id": "NM_173648",
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1512"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3167/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3167/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3167/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3167/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/3167/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "3170",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": null,
                    "KGP_genomes_AFR_maf": null,
                    "KGP_genomes_AMR_maf": null,
                    "KGP_genomes_EAS_maf": null,
                    "KGP_genomes_EUR_maf": null,
                    "KGP_genomes_SAS_maf": null,
                    "gnomad_maf": 7.961e-06,
                    "gnomad_AFR_maf": 0.0,
                    "gnomad_AMR_maf": 2.895e-05,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 0.0,
                    "gnomad_FIN_maf": 0.0,
                    "gnomad_NFE_maf": 0.0,
                    "gnomad_OTH_maf": 0.0,
                    "gnomad_SAS_maf": 3.267e-05,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Deleterious",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": 1.87973,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179736960,
                "genomic_position_hg38": 178872233,
                "chromosome": "2",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:59.502778",
                "ref_allele": "C",
                "alt_allele": "T",
                "cdna_change": "c.1979G>A",
                "protein_change": "p.Arg660Gln",
                "transcript_id": "NM_173648",
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1513"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3170/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3170/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3170/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3170/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/3170/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "3181",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0002,
                    "KGP_genomes_AFR_maf": 0.0,
                    "KGP_genomes_AMR_maf": 0.0014,
                    "KGP_genomes_EAS_maf": 0.0,
                    "KGP_genomes_EUR_maf": 0.0,
                    "KGP_genomes_SAS_maf": 0.0,
                    "gnomad_maf": 2.791e-05,
                    "gnomad_AFR_maf": 0.0001231,
                    "gnomad_AMR_maf": 2.894e-05,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 5.45e-05,
                    "gnomad_FIN_maf": 0.0,
                    "gnomad_NFE_maf": 2.65e-05,
                    "gnomad_OTH_maf": 0.0,
                    "gnomad_SAS_maf": 0.0,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Tolerated",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": 0.764236,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179732844,
                "genomic_position_hg38": 178868117,
                "chromosome": "2",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:59.565846",
                "ref_allele": "C",
                "alt_allele": "T",
                "cdna_change": "c.2483G>A",
                "protein_change": "p.Arg828Gln",
                "transcript_id": "NM_173648",
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1517"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3181/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3181/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3181/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3181/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/3181/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "3256",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": null,
                    "KGP_genomes_AFR_maf": null,
                    "KGP_genomes_AMR_maf": null,
                    "KGP_genomes_EAS_maf": null,
                    "KGP_genomes_EUR_maf": null,
                    "KGP_genomes_SAS_maf": null,
                    "gnomad_maf": null,
                    "gnomad_AFR_maf": null,
                    "gnomad_AMR_maf": null,
                    "gnomad_ASJ_maf": null,
                    "gnomad_EAS_maf": null,
                    "gnomad_FIN_maf": null,
                    "gnomad_NFE_maf": null,
                    "gnomad_OTH_maf": null,
                    "gnomad_SAS_maf": null,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": null,
                    "pp2_hvar_prediction": null,
                    "cadd_prediction": 5.12221,
                    "mutationtaster_prediction": "Disease causing"
                },
                "status": "CU",
                "genomic_position_hg19": 179718313,
                "genomic_position_hg38": 178853586,
                "chromosome": "2",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:58:00.019776",
                "ref_allele": "T",
                "alt_allele": "TA",
                "cdna_change": "c.3098dupT",
                "protein_change": "p.Val1033fs",
                "transcript_id": "NM_173648",
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1549"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3256/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3256/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3256/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3256/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/3256/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "3268",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": null,
                    "KGP_genomes_AFR_maf": null,
                    "KGP_genomes_AMR_maf": null,
                    "KGP_genomes_EAS_maf": null,
                    "KGP_genomes_EUR_maf": null,
                    "KGP_genomes_SAS_maf": null,
                    "gnomad_maf": null,
                    "gnomad_AFR_maf": null,
                    "gnomad_AMR_maf": null,
                    "gnomad_ASJ_maf": null,
                    "gnomad_EAS_maf": null,
                    "gnomad_FIN_maf": null,
                    "gnomad_NFE_maf": null,
                    "gnomad_OTH_maf": null,
                    "gnomad_SAS_maf": null,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": null,
                    "pp2_hvar_prediction": null,
                    "cadd_prediction": 0.265481,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 179710348,
                "genomic_position_hg38": 178845621,
                "chromosome": "2",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:58:00.094762",
                "ref_allele": "T",
                "alt_allele": "C",
                "cdna_change": "c.3474+5A>G",
                "protein_change": null,
                "transcript_id": "NM_173648",
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1555"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3268/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3268/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3268/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3268/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CCDC141"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/3268/?format=api"
            }
        }
    ],
    "meta": {
        "database_name": "OLIgogenic diseases DAtabase (OLIDA)",
        "resource_url": "olida.ibsquare.be",
        "api_release_year": "2021",
        "api_developer": [
            [
                "Arnau Dillen",
                "arnau.dillen@ulb.ac.be"
            ],
            [
                "Charlotte Nachtegael",
                "charlotte.nachtegael@ulb.be"
            ]
        ],
        "api_version": "0.3",
        "api_maintainers": [
            [
                "Charlotte Nachtegael",
                "charlotte.nachtegael@ulb.be"
            ]
        ],
        "api_documentation": [
            "olida.ibsquare.be/api/swagger",
            "olida.ibsquare.be/api/redoc"
        ],
        "copyright": "Copyright (c) 2025 · OLIDA All Rights Reserved.",
        "license": "CC Attribution-NonCommercial 4.0 International License",
        "ontologies": {
            "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO",
            "GENO": "http://purl.obolibrary.org/obo/geno.owl",
            "MI": "http://purl.obolibrary.org/obo/mi.owl",
            "NCIT": "http://purl.obolibrary.org/obo/ncit.owl",
            "OGI": "http://purl.obolibrary.org/obo/ogi.owl",
            "OGG": "http://purl.obolibrary.org/obo/ogg.owl"
        },
        "relevant_publications_doi": [
            "10.1093/nar/gkv1068",
            "10.1093/database/baac023"
        ],
        "Variant serializers": [
            "SmallVariantSerializer",
            "CopyNumberVariantSerializer"
        ],
        "size": 15
    }
}