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

GET /api/combinations/OLI533/variants/?format=api
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/vnd.api+json
Vary: Accept

{
    "data": [
        {
            "type": "SmallVariant",
            "id": "1120",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0018,
                    "KGP_genomes_AFR_maf": 0.0,
                    "KGP_genomes_AMR_maf": 0.0043,
                    "KGP_genomes_EAS_maf": 0.0,
                    "KGP_genomes_EUR_maf": 0.006,
                    "KGP_genomes_SAS_maf": 0.0,
                    "gnomad_maf": 0.004406,
                    "gnomad_AFR_maf": 0.001121,
                    "gnomad_AMR_maf": 0.001956,
                    "gnomad_ASJ_maf": 0.004256,
                    "gnomad_EAS_maf": 0.0,
                    "gnomad_FIN_maf": 0.004861,
                    "gnomad_NFE_maf": 0.007631,
                    "gnomad_OTH_maf": 0.005381,
                    "gnomad_SAS_maf": 8.003e-05,
                    "ESP_AA_maf": 0.001142,
                    "ESP_EA_maf": 0.007105
                },
                "predictions": {
                    "sift_prediction": "Deleterious",
                    "pp2_hvar_prediction": "Damaging",
                    "cadd_prediction": 3.677342,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 73826167,
                "genomic_position_hg38": 75830086,
                "chromosome": "17",
                "annotation_flag": "manually_attributed",
                "lastmodified": "2023-06-06T16:57:47.253148",
                "ref_allele": "G",
                "alt_allele": "A",
                "cdna_change": "c.2896C>T",
                "protein_change": "p.Arg966Trp",
                "transcript_id": "NM_199242.3",
                "dbsnp_id": "rs118049905",
                "variant_effect": "missense"
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 3
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI531"
                        },
                        {
                            "type": "Combination",
                            "id": "OLI533"
                        },
                        {
                            "type": "Combination",
                            "id": "OLI540"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1120/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1120/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1120/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1120/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "UNC13D"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/1120/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "1123",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0002,
                    "KGP_genomes_AFR_maf": 0.0008,
                    "KGP_genomes_AMR_maf": 0.0,
                    "KGP_genomes_EAS_maf": 0.0,
                    "KGP_genomes_EUR_maf": 0.0,
                    "KGP_genomes_SAS_maf": 0.0,
                    "gnomad_maf": 0.0001432,
                    "gnomad_AFR_maf": 0.000123,
                    "gnomad_AMR_maf": 0.0006361,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 0.0,
                    "gnomad_FIN_maf": 0.0,
                    "gnomad_NFE_maf": 3.517e-05,
                    "gnomad_OTH_maf": 0.0009775,
                    "gnomad_SAS_maf": 6.533e-05,
                    "ESP_AA_maf": 0.0,
                    "ESP_EA_maf": 0.0001163
                },
                "predictions": {
                    "sift_prediction": "Deleterious",
                    "pp2_hvar_prediction": "Damaging",
                    "cadd_prediction": 2.996412,
                    "mutationtaster_prediction": "Disease causing"
                },
                "status": "CU",
                "genomic_position_hg19": 72360214,
                "genomic_position_hg38": 70600458,
                "chromosome": "10",
                "annotation_flag": "automatically_attributed_and_verified",
                "lastmodified": "2023-06-06T16:57:47.271596",
                "ref_allele": "C",
                "alt_allele": "T",
                "cdna_change": "c.445G>A",
                "protein_change": "p.Gly149Ser",
                "transcript_id": "NM_005041.4",
                "dbsnp_id": "rs147462227",
                "variant_effect": "missense"
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI533"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1123/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1123/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1123/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1123/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "PRF1"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/1123/?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": 2
    }
}