Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI618/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "80", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001512, "gnomad_AFR_maf": 0.0004921, "gnomad_AMR_maf": 0.0008385, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0009241, "gnomad_NFE_maf": 0.002762, "gnomad_OTH_maf": 0.001468, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0006818, "ESP_EA_maf": 0.002678 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.720893, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66293652, "genomic_position_hg38": 66526181, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.999396", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1169T>G", "protein_change": "p.Met390Arg", "transcript_id": "NM_024649.4", "dbsnp_id": "rs113624356", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 16 }, "data": [ { "type": "Combination", "id": "OLI037" }, { "type": "Combination", "id": "OLI038" }, { "type": "Combination", "id": "OLI039" }, { "type": "Combination", "id": "OLI062" }, { "type": "Combination", "id": "OLI063" }, { "type": "Combination", "id": "OLI064" }, { "type": "Combination", "id": "OLI065" }, { "type": "Combination", "id": "OLI066" }, { "type": "Combination", "id": "OLI088" }, { "type": "Combination", "id": "OLI141" }, { "type": "Combination", "id": "OLI417" }, { "type": "Combination", "id": "OLI618" }, { "type": "Combination", "id": "OLI619" }, { "type": "Combination", "id": "OLI1116" }, { "type": "Combination", "id": "OLI1118" }, { "type": "Combination", "id": "OLI1120" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/80/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/80/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/80/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/80/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/80/?format=api" } }, { "type": "SmallVariant", "id": "169", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.00419, "gnomad_AFR_maf": 0.0004311, "gnomad_AMR_maf": 0.001649, "gnomad_ASJ_maf": 0.004564, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.004805, "gnomad_NFE_maf": 0.006979, "gnomad_OTH_maf": 0.003264, "gnomad_SAS_maf": 0.0008169, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.00698 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.620418, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 170350279, "genomic_position_hg38": 169493769, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.512539", "ref_allele": "A", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Asn184Ser", "transcript_id": null, "dbsnp_id": "rs137853921", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI083" }, { "type": "Combination", "id": "OLI618" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/169/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/169/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/169/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/169/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/169/?format=api" } }, { "type": "CopyNumberVariant", "id": "1359", "attributes": { "status": "CU", "genomic_position_hg19": 66290130, "genomic_position_hg38": 66522659, "chromosome": "11", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:01:08.189885", "location": "exon10_17", "sequence": "exon10_17", "number_of_repeats": null, "type_cnv": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI618" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1359/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1359/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "BBS1" }, "links": { "related": "https://olida.ibsquare.be/api/genes/BBS1/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1359/?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": 3 } }