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

GET /api/genes/FEZF1/variants/?format=api
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/vnd.api+json
Vary: Accept

{
    "data": [
        {
            "type": "SmallVariant",
            "id": "2686",
            "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": 4.233e-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": 9.363e-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": 0.290734,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 121942107,
                "genomic_position_hg38": 122302053,
                "chromosome": "7",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:56.630732",
                "ref_allele": "G",
                "alt_allele": "A",
                "cdna_change": "c.1372C>T",
                "protein_change": "p.Pro458Ser",
                "transcript_id": "NM_001024613.4",
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1274"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2686/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2686/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2686/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2686/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "FEZF1"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/2686/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "2689",
            "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": 3.977e-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": 8.791e-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": 2.494317,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 121943770,
                "genomic_position_hg38": 122303716,
                "chromosome": "7",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:56.649821",
                "ref_allele": "A",
                "alt_allele": "T",
                "cdna_change": "c.722T>A",
                "protein_change": "p.Ile241Asn",
                "transcript_id": "NM_001024613.4",
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 2
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1275"
                        },
                        {
                            "type": "Combination",
                            "id": "OLI1299"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2689/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2689/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2689/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2689/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "FEZF1"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/2689/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "2718",
            "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": "Possibly Damaging",
                    "cadd_prediction": 3.728306,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 121944110,
                "genomic_position_hg38": 122304056,
                "chromosome": "7",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:56.822787",
                "ref_allele": "T",
                "alt_allele": "G",
                "cdna_change": "c.382A>C",
                "protein_change": "p.Lys128Gln",
                "transcript_id": "NM_001024613.4",
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1293"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2718/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2718/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2718/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2718/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "FEZF1"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/2718/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "2724",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0016,
                    "KGP_genomes_AFR_maf": 0.0,
                    "KGP_genomes_AMR_maf": 0.0014,
                    "KGP_genomes_EAS_maf": 0.0,
                    "KGP_genomes_EUR_maf": 0.006,
                    "KGP_genomes_SAS_maf": 0.001,
                    "gnomad_maf": 0.005817,
                    "gnomad_AFR_maf": 0.001057,
                    "gnomad_AMR_maf": 0.002106,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 0.0,
                    "gnomad_FIN_maf": 0.013,
                    "gnomad_NFE_maf": 0.008066,
                    "gnomad_OTH_maf": 0.005977,
                    "gnomad_SAS_maf": 0.004541,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Tolerated",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": 1.558951,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 121944239,
                "genomic_position_hg38": 122304185,
                "chromosome": "7",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:56.859061",
                "ref_allele": "T",
                "alt_allele": "C",
                "cdna_change": "c.253A>G",
                "protein_change": "p.Ser85Gly",
                "transcript_id": "NM_001024613.4",
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1296"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2724/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2724/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2724/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2724/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "FEZF1"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/2724/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "2821",
            "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": 1.591e-05,
                    "gnomad_AFR_maf": 0.0001232,
                    "gnomad_AMR_maf": 0.0,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 0.0001087,
                    "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": 2.593494,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 121943728,
                "genomic_position_hg38": 122303674,
                "chromosome": "7",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:57.441480",
                "ref_allele": "G",
                "alt_allele": "A",
                "cdna_change": "c.614C>T",
                "protein_change": "p.Ala205Val",
                "transcript_id": null,
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1336"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2821/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2821/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2821/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2821/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "FEZF1"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/2821/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "3323",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0008,
                    "KGP_genomes_AFR_maf": 0.0,
                    "KGP_genomes_AMR_maf": 0.0,
                    "KGP_genomes_EAS_maf": 0.0,
                    "KGP_genomes_EUR_maf": 0.0,
                    "KGP_genomes_SAS_maf": 0.0041,
                    "gnomad_maf": 0.0005665,
                    "gnomad_AFR_maf": 0.0,
                    "gnomad_AMR_maf": 5.789e-05,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 5.445e-05,
                    "gnomad_FIN_maf": 0.0,
                    "gnomad_NFE_maf": 0.0001943,
                    "gnomad_OTH_maf": 0.0003271,
                    "gnomad_SAS_maf": 0.003758,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Tolerated",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": 1.505438,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 121943939,
                "genomic_position_hg38": 122303885,
                "chromosome": "7",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:58:00.429107",
                "ref_allele": "A",
                "alt_allele": "G",
                "cdna_change": "c.553T>C",
                "protein_change": "p.Phe185Leu",
                "transcript_id": "NM_001024613",
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1575"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3323/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3323/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3323/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3323/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "FEZF1"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/3323/?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": 6
    }
}