GET

Gene Instance

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/genes/POLR3B/?format=api
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/vnd.api+json
Vary: Accept

{
    "data": {
        "type": "Gene",
        "id": "POLR3B",
        "attributes": {
            "go_molecular_function": [
                "[\"DNA-directed 5'-3' RNA polymerase activity\", 'DNA binding', 'metal ion binding', 'ribonucleoside binding']"
            ],
            "pathway_id": [
                "kegg_path:hsa03020",
                "kegg_path:hsa04623",
                "R-HSA-168249",
                "R-HSA-168256",
                "R-HSA-1834949",
                "R-HSA-73780",
                "R-HSA-73980",
                "R-HSA-74158",
                "R-HSA-74160",
                "R-HSA-749476",
                "R-HSA-76046",
                "R-HSA-76061",
                "R-HSA-76066",
                "R-HSA-76071"
            ],
            "essential_gene": null,
            "status": null,
            "uniprot_acc": "Q9NW08",
            "ensembl_id": "None",
            "entrez_id": "ENSG00000013503",
            "chromosome_number": "12"
        },
        "relationships": {
            "variant_set": {
                "meta": {
                    "count": 3
                },
                "data": [
                    {
                        "type": "SmallVariant",
                        "id": "2898"
                    },
                    {
                        "type": "SmallVariant",
                        "id": "2899"
                    },
                    {
                        "type": "SmallVariant",
                        "id": "2927"
                    }
                ],
                "links": {
                    "self": "https://olida.ibsquare.be/api/genes/POLR3B/relationships/variant_set?format=api",
                    "related": "https://olida.ibsquare.be/api/genes/POLR3B/variants/?format=api"
                }
            },
            "genecombination_set": {
                "meta": {
                    "count": 2
                },
                "data": [
                    {
                        "type": "GeneCombination",
                        "id": "961"
                    },
                    {
                        "type": "GeneCombination",
                        "id": "972"
                    }
                ],
                "links": {
                    "self": "https://olida.ibsquare.be/api/genes/POLR3B/relationships/genecombination_set?format=api",
                    "related": "https://olida.ibsquare.be/api/genes/POLR3B/genecombinations/?format=api"
                }
            }
        },
        "links": {
            "self": "https://olida.ibsquare.be/api/genes/POLR3B/?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": "2023-05-16T12:02:33.092625",
        "status": "CU",
        "curator": null,
        "submitter": "cnachteg"
    }
}