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

GET /api/combinations/OLI509/variants/?format=api
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/vnd.api+json
Vary: Accept

{
    "data": [
        {
            "type": "SmallVariant",
            "id": "1074",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0006,
                    "KGP_genomes_AFR_maf": 0.0,
                    "KGP_genomes_AMR_maf": 0.0,
                    "KGP_genomes_EAS_maf": 0.002,
                    "KGP_genomes_EUR_maf": 0.0,
                    "KGP_genomes_SAS_maf": 0.001,
                    "gnomad_maf": 4.054e-05,
                    "gnomad_AFR_maf": 0.0,
                    "gnomad_AMR_maf": 0.0,
                    "gnomad_ASJ_maf": 0.0,
                    "gnomad_EAS_maf": 0.0002885,
                    "gnomad_FIN_maf": 0.0,
                    "gnomad_NFE_maf": 0.0,
                    "gnomad_OTH_maf": 0.0,
                    "gnomad_SAS_maf": 0.0001365,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Deleterious",
                    "pp2_hvar_prediction": "Damaging",
                    "cadd_prediction": 3.671799,
                    "mutationtaster_prediction": "Disease causing"
                },
                "status": "CU",
                "genomic_position_hg19": 144885908,
                "genomic_position_hg38": 143803738,
                "chromosome": "8",
                "annotation_flag": "automatically_attributed",
                "lastmodified": "2023-06-06T16:57:46.968978",
                "ref_allele": "C",
                "alt_allele": "T",
                "cdna_change": "c.3323G>A",
                "protein_change": "p.Gly1108Glu",
                "transcript_id": "NM_182706.4",
                "dbsnp_id": "rs529610993",
                "variant_effect": "missense"
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 2
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI505"
                        },
                        {
                            "type": "Combination",
                            "id": "OLI509"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1074/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1074/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1074/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1074/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "SCRIB"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/1074/?format=api"
            }
        },
        {
            "type": "SmallVariant",
            "id": "1080",
            "attributes": {
                "frequencies": {
                    "KGP_genomes_maf": 0.0012,
                    "KGP_genomes_AFR_maf": 0.0,
                    "KGP_genomes_AMR_maf": 0.0,
                    "KGP_genomes_EAS_maf": 0.006,
                    "KGP_genomes_EUR_maf": 0.0,
                    "KGP_genomes_SAS_maf": 0.0,
                    "gnomad_maf": 0.0003985,
                    "gnomad_AFR_maf": 0.0002461,
                    "gnomad_AMR_maf": 0.0001735,
                    "gnomad_ASJ_maf": 9.923e-05,
                    "gnomad_EAS_maf": 0.00212,
                    "gnomad_FIN_maf": 4.63e-05,
                    "gnomad_NFE_maf": 0.0002295,
                    "gnomad_OTH_maf": 0.0003262,
                    "gnomad_SAS_maf": 0.0006859,
                    "ESP_AA_maf": null,
                    "ESP_EA_maf": null
                },
                "predictions": {
                    "sift_prediction": "Deleterious",
                    "pp2_hvar_prediction": "Possibly Damaging",
                    "cadd_prediction": 3.762673,
                    "mutationtaster_prediction": "Disease causing"
                },
                "status": "CU",
                "genomic_position_hg19": 43111200,
                "genomic_position_hg38": 43143462,
                "chromosome": "6",
                "annotation_flag": "automatically_attributed_and_verified",
                "lastmodified": "2023-06-06T16:57:47.006608",
                "ref_allele": "C",
                "alt_allele": "G",
                "cdna_change": "c.1925C>G",
                "protein_change": "p.Pro642Arg",
                "transcript_id": "NM_152882",
                "dbsnp_id": "rs148120569",
                "variant_effect": "missense"
            },
            "relationships": {
                "in_combination": {
                    "meta": {
                        "count": 1
                    },
                    "data": [
                        {
                            "type": "Combination",
                            "id": "OLI509"
                        }
                    ],
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1080/relationships/in_combination?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1080/combinations/?format=api"
                    }
                },
                "gene_name": {
                    "links": {
                        "self": "https://olida.ibsquare.be/api/variants/1080/relationships/gene_name?format=api",
                        "related": "https://olida.ibsquare.be/api/variants/1080/gene/?format=api"
                    },
                    "data": {
                        "type": "Gene",
                        "id": "PTK7"
                    }
                }
            },
            "links": {
                "self": "https://olida.ibsquare.be/api/variants/1080/?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
    }
}