Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI605/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1330", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0001315, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.894e-05, "gnomad_ASJ_maf": 0.001886, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001058, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.269e-05, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.55797, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48835310, "genomic_position_hg38": 48261174, "chromosome": "13", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.519948", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.751A>G", "protein_change": "p.Ile251Val", "transcript_id": "NM_021999.4", "dbsnp_id": "rs139394220", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI605" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1330/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1330/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1330/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1330/gene/?format=api" }, "data": { "type": "Gene", "id": "ITM2B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1330/?format=api" } }, { "type": "CopyNumberVariant", "id": "530", "attributes": { "status": "CU", "genomic_position_hg19": 27573539, "genomic_position_hg38": 27573541, "chromosome": "9", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:00:53.931468", "location": "9p21.2", "sequence": "GGGGCC", "number_of_repeats": "{\"bounds\": \"[)\", \"lower\": \"30\", \"upper\": null}", "type_cnv": "repeat" }, "relationships": { "in_combination": { "meta": { "count": 30 }, "data": [ { "type": "Combination", "id": "OLI271" }, { "type": "Combination", "id": "OLI272" }, { "type": "Combination", "id": "OLI273" }, { "type": "Combination", "id": "OLI561" }, { "type": "Combination", "id": "OLI605" }, { "type": "Combination", "id": "OLI624" }, { "type": "Combination", "id": "OLI625" }, { "type": "Combination", "id": "OLI626" }, { "type": "Combination", "id": "OLI627" }, { "type": "Combination", "id": "OLI628" }, { "type": "Combination", "id": "OLI629" }, { "type": "Combination", "id": "OLI630" }, { "type": "Combination", "id": "OLI631" }, { "type": "Combination", "id": "OLI632" }, { "type": "Combination", "id": "OLI633" }, { "type": "Combination", "id": "OLI637" }, { "type": "Combination", "id": "OLI638" }, { "type": "Combination", "id": "OLI655" }, { "type": "Combination", "id": "OLI656" }, { "type": "Combination", "id": "OLI657" }, { "type": "Combination", "id": "OLI769" }, { "type": "Combination", "id": "OLI770" }, { "type": "Combination", "id": "OLI771" }, { "type": "Combination", "id": "OLI772" }, { "type": "Combination", "id": "OLI773" }, { "type": "Combination", "id": "OLI774" }, { "type": "Combination", "id": "OLI822" }, { "type": "Combination", "id": "OLI830" }, { "type": "Combination", "id": "OLI1009" }, { "type": "Combination", "id": "OLI1011" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/530/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/530/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "C9orf72" }, "links": { "related": "https://olida.ibsquare.be/api/genes/C9orf72/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/530/?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 } }