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

GET /api/combinations/OLI1593/variants/?format=api
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/vnd.api+json
Vary: Accept

{
    "data": [
        {
            "type": "SmallVariant",
            "id": "3362",
            "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": "Disease causing"
                },
                "status": "CU",
                "genomic_position_hg19": 38275746,
                "genomic_position_hg38": 38418228,
                "chromosome": "8",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:58:00.666632",
                "ref_allele": "CC",
                "alt_allele": "C",
                "cdna_change": "c.1430+1delG",
                "protein_change": null,
                "transcript_id": null,
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1593"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3362/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3362/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3362/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3362/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "FGFR1"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/3362/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "3363",
            "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": 2.407e-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": 5.307e-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": "Benign",
                    "cadd_prediction": 1.768823,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 61655096,
                "genomic_position_hg38": 60742537,
                "chromosome": "8",
                "annotation_flag": null,
                "lastmodified": "2023-06-06T16:58:00.672810",
                "ref_allele": "C",
                "alt_allele": "G",
                "cdna_change": "c.1105C>G",
                "protein_change": "p.Pro369Ala",
                "transcript_id": null,
                "dbsnp_id": "NA",
                "variant_effect": null
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI1593"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3363/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3363/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/3363/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/3363/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "CHD7"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/3363/?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
    }
}