Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI044/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "87", "attributes": { "frequencies": { "KGP_genomes_maf": 0.007, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.004, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0297, "gnomad_maf": 0.004581, "gnomad_AFR_maf": 0.0004309, "gnomad_AMR_maf": 0.0005795, "gnomad_ASJ_maf": 0.003078, "gnomad_EAS_maf": 0.001578, "gnomad_FIN_maf": 0.0001849, "gnomad_NFE_maf": 0.001824, "gnomad_OTH_maf": 0.002616, "gnomad_SAS_maf": 0.02731, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.001977 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.309231, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 87645092, "genomic_position_hg38": 86632864, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.036486", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1208G>A", "protein_change": "p.Arg403Gln", "transcript_id": "NM_019098.4", "dbsnp_id": "rs147876778", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 9 }, "data": [ { "type": "Combination", "id": "OLI042" }, { "type": "Combination", "id": "OLI043" }, { "type": "Combination", "id": "OLI044" }, { "type": "Combination", "id": "OLI045" }, { "type": "Combination", "id": "OLI046" }, { "type": "Combination", "id": "OLI047" }, { "type": "Combination", "id": "OLI048" }, { "type": "Combination", "id": "OLI049" }, { "type": "Combination", "id": "OLI050" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/87/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/87/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/87/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/87/gene/?format=api" }, "data": { "type": "Gene", "id": "CNGB3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/87/?format=api" } }, { "type": "SmallVariant", "id": "90", "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": 1.194e-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": 1.761e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.182379, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 99013410, "genomic_position_hg38": 98396947, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.054941", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1777G>A", "protein_change": "p.Glu593Lys", "transcript_id": "NM_001298.2", "dbsnp_id": "rs774676415", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI044" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/90/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/90/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/90/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/90/gene/?format=api" }, "data": { "type": "Gene", "id": "CNGA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/90/?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 } }