Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI759/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "304", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0039, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002595, "gnomad_AFR_maf": 0.0004084, "gnomad_AMR_maf": 0.000998, "gnomad_ASJ_maf": 0.002378, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.005319, "gnomad_NFE_maf": 0.004363, "gnomad_OTH_maf": 0.001349, "gnomad_SAS_maf": 0.0001278, "ESP_AA_maf": 0.001312, "ESP_EA_maf": 0.003875 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.800182, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 136648899, "genomic_position_hg38": 137566740, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.315769", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.49G>T", "protein_change": "p.Gly17Cys", "transcript_id": "NM_003413.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 6 }, "data": [ { "type": "Combination", "id": "OLI149" }, { "type": "Combination", "id": "OLI151" }, { "type": "Combination", "id": "OLI696" }, { "type": "Combination", "id": "OLI713" }, { "type": "Combination", "id": "OLI722" }, { "type": "Combination", "id": "OLI759" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/304/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/304/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/304/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/304/gene/?format=api" }, "data": { "type": "Gene", "id": "ZIC3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/304/?format=api" } }, { "type": "SmallVariant", "id": "1683", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003069, "gnomad_AFR_maf": 0.001248, "gnomad_AMR_maf": 0.001477, "gnomad_ASJ_maf": 0.006893, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.002264, "gnomad_NFE_maf": 0.004947, "gnomad_OTH_maf": 0.003291, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.001135, "ESP_EA_maf": 0.003953 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.288118, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 44480591, "genomic_position_hg38": 43060481, "chromosome": "21", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:50.687974", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1105C>T", "protein_change": "p.Arg369Cys", "transcript_id": "NM_000071.3", "dbsnp_id": "rs117687681", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI759" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1683/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1683/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1683/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1683/gene/?format=api" }, "data": { "type": "Gene", "id": "CBS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1683/?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 } }