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

GET /api/genes/CEP290/variants/?format=api
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/vnd.api+json
Vary: Accept

{
    "data": [
        {
            "type": "SmallVariant",
            "id": "3049",
            "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": null,
                    "mutationtaster_prediction": null
                },
                "status": "CU",
                "genomic_position_hg19": 884430887,
                "genomic_position_hg38": null,
                "chromosome": "12",
                "annotation_flag": null,
                "lastmodified": "2023-05-16T12:02:57.905626",
                "ref_allele": "ATTC",
                "alt_allele": "A",
                "cdna_change": "c.7311_7313delGAA",
                "protein_change": "p.Lys2437del",
                "transcript_id": "NM_025114.4",
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1452"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3049/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3049/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3049/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3049/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CEP290"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/3049/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "477",
            "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": 1.337e-05,
                    "gnomad_AFR_maf": 0.0,
                    "gnomad_AMR_maf": 0.0,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 0.0,
                    "gnomad_FIN_maf": 0.0,
                    "gnomad_NFE_maf": 3.052e-05,
                    "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": "Possibly Damaging",
                    "cadd_prediction": 3.842419,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 88483212,
                "genomic_position_hg38": 88089435,
                "chromosome": "12",
                "annotation_flag": "manually_attributed",
                "lastmodified": "2023-06-06T16:57:43.325557",
                "ref_allele": "G",
                "alt_allele": "C",
                "cdna_change": "c.3626C>G",
                "protein_change": "p.Ser1209Cys",
                "transcript_id": "NM_025114.4",
                "dbsnp_id": "rs753350609",
                "variant_effect": "missense"
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI244"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/477/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/477/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/477/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/477/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CEP290"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/477/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "631",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0154,
                    "KGP_genomes_AFR_maf": 0.0121,
                    "KGP_genomes_AMR_maf": 0.0144,
                    "KGP_genomes_EAS_maf": 0.0238,
                    "KGP_genomes_EUR_maf": 0.0258,
                    "KGP_genomes_SAS_maf": 0.001,
                    "gnomad_maf": 0.01358,
                    "gnomad_AFR_maf": 0.006075,
                    "gnomad_AMR_maf": 0.01043,
                    "gnomad_ASJ_maf": 0.001408,
                    "gnomad_EAS_maf": 0.01075,
                    "gnomad_FIN_maf": 0.02482,
                    "gnomad_NFE_maf": 0.01758,
                    "gnomad_OTH_maf": 0.01321,
                    "gnomad_SAS_maf": 0.002806,
                    "ESP_AA_maf": 0.00751,
                    "ESP_EA_maf": 0.01711
                },
                "predictions": {
                    "sift_prediction": "Deleterious",
                    "pp2_hvar_prediction": "Damaging",
                    "cadd_prediction": 3.325438,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 88523494,
                "genomic_position_hg38": 88129717,
                "chromosome": "12",
                "annotation_flag": "manually_attributed",
                "lastmodified": "2023-06-06T16:57:44.206796",
                "ref_allele": "C",
                "alt_allele": "G",
                "cdna_change": "c.829G>C",
                "protein_change": "p.Glu277Gln",
                "transcript_id": "NM_025114.4",
                "dbsnp_id": "rs45502896",
                "variant_effect": "missense"
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI324"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/631/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/631/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/631/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/631/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CEP290"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/631/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "1366",
            "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": "Deleterious",
                    "pp2_hvar_prediction": "Damaging",
                    "cadd_prediction": 4.076577,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 88452716,
                "genomic_position_hg38": 88058939,
                "chromosome": "12",
                "annotation_flag": "manually_attributed",
                "lastmodified": "2023-06-06T16:57:48.675370",
                "ref_allele": "C",
                "alt_allele": "G",
                "cdna_change": "c.6727G>C",
                "protein_change": "p.Glu2243Gln",
                "transcript_id": "NM_025114.3",
                "dbsnp_id": "NA",
                "variant_effect": "missense"
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI622"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1366/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1366/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1366/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1366/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CEP290"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/1366/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "1367",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0058,
                    "KGP_genomes_AFR_maf": 0.0,
                    "KGP_genomes_AMR_maf": 0.0029,
                    "KGP_genomes_EAS_maf": 0.0,
                    "KGP_genomes_EUR_maf": 0.0089,
                    "KGP_genomes_SAS_maf": 0.0184,
                    "gnomad_maf": 0.007577,
                    "gnomad_AFR_maf": 0.001421,
                    "gnomad_AMR_maf": 0.001863,
                    "gnomad_ASJ_maf": 0.04068,
                    "gnomad_EAS_maf": 7.418e-05,
                    "gnomad_FIN_maf": 0.001054,
                    "gnomad_NFE_maf": 0.007413,
                    "gnomad_OTH_maf": 0.0067,
                    "gnomad_SAS_maf": 0.01449,
                    "ESP_AA_maf": 0.0008385,
                    "ESP_EA_maf": 0.007544
                },
                "predictions": {
                    "sift_prediction": "Tolerated",
                    "pp2_hvar_prediction": "Damaging",
                    "cadd_prediction": 3.393668,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 88454728,
                "genomic_position_hg38": 88060951,
                "chromosome": "12",
                "annotation_flag": "manually_attributed",
                "lastmodified": "2023-06-06T16:57:48.681319",
                "ref_allele": "A",
                "alt_allele": "G",
                "cdna_change": "c.6401T>C",
                "protein_change": "p.Ile2134Thr",
                "transcript_id": "NM_025114.3",
                "dbsnp_id": "NA",
                "variant_effect": "missense"
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI622"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1367/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1367/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1367/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1367/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CEP290"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/1367/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "2470",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0114,
                    "KGP_genomes_AFR_maf": 0.0008,
                    "KGP_genomes_AMR_maf": 0.0072,
                    "KGP_genomes_EAS_maf": 0.005,
                    "KGP_genomes_EUR_maf": 0.004,
                    "KGP_genomes_SAS_maf": 0.0429,
                    "gnomad_maf": 0.01064,
                    "gnomad_AFR_maf": 0.001732,
                    "gnomad_AMR_maf": 0.00542,
                    "gnomad_ASJ_maf": 0.006148,
                    "gnomad_EAS_maf": 0.007235,
                    "gnomad_FIN_maf": 0.002625,
                    "gnomad_NFE_maf": 0.008122,
                    "gnomad_OTH_maf": 0.008624,
                    "gnomad_SAS_maf": 0.04366,
                    "ESP_AA_maf": 0.001947,
                    "ESP_EA_maf": 0.009708
                },
                "predictions": {
                    "sift_prediction": "Tolerated",
                    "pp2_hvar_prediction": "Benign",
                    "cadd_prediction": 2.86718,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 88472996,
                "genomic_position_hg38": 88079219,
                "chromosome": "12",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:57:55.446249",
                "ref_allele": "C",
                "alt_allele": "T",
                "cdna_change": "c.5237G>A",
                "protein_change": "p.Arg1746Gln",
                "transcript_id": null,
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1146"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2470/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2470/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/2470/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/2470/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CEP290"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/2470/?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
    }
}