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

GET /api/combinations/OLI805/variants/?format=api
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/vnd.api+json
Vary: Accept

{
    "data": [
        {
            "type": "SmallVariant",
            "id": "1770",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0004,
                    "KGP_genomes_AFR_maf": 0.0,
                    "KGP_genomes_AMR_maf": 0.0,
                    "KGP_genomes_EAS_maf": 0.0,
                    "KGP_genomes_EUR_maf": 0.002,
                    "KGP_genomes_SAS_maf": 0.0,
                    "gnomad_maf": 0.0004746,
                    "gnomad_AFR_maf": 0.0001231,
                    "gnomad_AMR_maf": 0.00159,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 0.0,
                    "gnomad_FIN_maf": 9.301e-05,
                    "gnomad_NFE_maf": 0.0005124,
                    "gnomad_OTH_maf": 0.0003262,
                    "gnomad_SAS_maf": 0.0,
                    "ESP_AA_maf": 0.0,
                    "ESP_EA_maf": 0.0005814
                },
                "predictions": {
                    "sift_prediction": null,
                    "pp2_hvar_prediction": null,
                    "cadd_prediction": -0.200386,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 6471182,
                "genomic_position_hg38": 6362016,
                "chromosome": "12",
                "annotation_flag": "manually_corrected",
                "lastmodified": "2023-06-06T16:57:51.216473",
                "ref_allele": "C",
                "alt_allele": "T",
                "cdna_change": "c.944+35G>A",
                "protein_change": null,
                "transcript_id": "NM_001159576.2):c.1052+35G>A",
                "dbsnp_id": "rs55773452",
                "variant_effect": "unknown"
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI805"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1770/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1770/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1770/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1770/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "SCNN1A"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/1770/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "1771",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0849,
                    "KGP_genomes_AFR_maf": 0.2504,
                    "KGP_genomes_AMR_maf": 0.0447,
                    "KGP_genomes_EAS_maf": 0.0,
                    "KGP_genomes_EUR_maf": 0.0616,
                    "KGP_genomes_SAS_maf": 0.001,
                    "gnomad_maf": 0.05631,
                    "gnomad_AFR_maf": 0.2257,
                    "gnomad_AMR_maf": 0.03839,
                    "gnomad_ASJ_maf": 0.04802,
                    "gnomad_EAS_maf": 0.0003806,
                    "gnomad_FIN_maf": 0.08972,
                    "gnomad_NFE_maf": 0.05201,
                    "gnomad_OTH_maf": 0.05831,
                    "gnomad_SAS_maf": 0.01486,
                    "ESP_AA_maf": 0.2082,
                    "ESP_EA_maf": 0.05186
                },
                "predictions": {
                    "sift_prediction": null,
                    "pp2_hvar_prediction": null,
                    "cadd_prediction": 0.239911,
                    "mutationtaster_prediction": "Polymorphism"
                },
                "status": "CU",
                "genomic_position_hg19": 23379279,
                "genomic_position_hg38": 23367958,
                "chromosome": "16",
                "annotation_flag": "automatically_attributed_and_verified",
                "lastmodified": "2023-06-06T16:57:51.223000",
                "ref_allele": "C",
                "alt_allele": "T",
                "cdna_change": "c.879C>T",
                "protein_change": "p.Phe293=",
                "transcript_id": "NM_000336.2",
                "dbsnp_id": "rs250563",
                "variant_effect": "splicing"
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI805"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1771/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1771/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1771/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1771/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "SCNN1B"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/1771/?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
    }
}