GET

Gene

This API endpoint handles listing (/genes) and retrieval (/genes/<ID>/) of genes that are contained in the database due to their association to
genetic variants that are involved in at least one oligogenic combination in OLIDA.

GET /api/variants/3686/gene/?format=api
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/vnd.api+json
Vary: Accept

{
    "data": {
        "type": "Gene",
        "id": "PMM2",
        "attributes": {
            "go_molecular_function": [
                "['phosphomannomutase activity', 'metal ion binding', 'protein binding']"
            ],
            "pathway_id": [
                "kegg_path:hsa00051",
                "kegg_path:hsa00520",
                "kegg_path:hsa01100",
                "kegg_path:hsa01240",
                "kegg_path:hsa00051",
                "kegg_path:hsa00520",
                "kegg_path:hsa01100",
                "kegg_path:hsa01240",
                "R-HSA-1643685",
                "R-HSA-3781865",
                "R-HSA-392499",
                "R-HSA-4043911",
                "R-HSA-446193",
                "R-HSA-446203",
                "R-HSA-446205",
                "R-HSA-446219",
                "R-HSA-5609975",
                "R-HSA-5668914",
                "R-HSA-597592"
            ],
            "essential_gene": "Essential",
            "status": null,
            "uniprot_acc": "O15305",
            "ensembl_id": "None",
            "entrez_id": "ENSG00000140650",
            "chromosome_number": "16"
        },
        "relationships": {
            "variant_set": {
                "meta": {
                    "count": 6
                },
                "data": [
                    {
                        "type": "SmallVariant",
                        "id": "650"
                    },
                    {
                        "type": "SmallVariant",
                        "id": "1068"
                    },
                    {
                        "type": "SmallVariant",
                        "id": "1069"
                    },
                    {
                        "type": "SmallVariant",
                        "id": "1992"
                    },
                    {
                        "type": "SmallVariant",
                        "id": "3685"
                    },
                    {
                        "type": "SmallVariant",
                        "id": "3686"
                    }
                ],
                "links": {
                    "self": "https://olida.ibsquare.be/api/genes/PMM2/relationships/variant_set?format=api",
                    "related": "https://olida.ibsquare.be/api/genes/PMM2/variants/?format=api"
                }
            },
            "genecombination_set": {
                "meta": {
                    "count": 4
                },
                "data": [
                    {
                        "type": "GeneCombination",
                        "id": "217"
                    },
                    {
                        "type": "GeneCombination",
                        "id": "349"
                    },
                    {
                        "type": "GeneCombination",
                        "id": "685"
                    },
                    {
                        "type": "GeneCombination",
                        "id": "1245"
                    }
                ],
                "links": {
                    "self": "https://olida.ibsquare.be/api/genes/PMM2/relationships/genecombination_set?format=api",
                    "related": "https://olida.ibsquare.be/api/genes/PMM2/genecombinations/?format=api"
                }
            }
        },
        "links": {
            "self": "https://olida.ibsquare.be/api/genes/PMM2/?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"
        ],
        "lastmodified": "2021-10-18T11:00:44.354107",
        "status": "CU",
        "curator": null,
        "submitter": "cnachteg"
    }
}