Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/EDNRB/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1946", "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": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "13", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:01:21.586149", "ref_allele": null, "alt_allele": null, "cdna_change": "c.-26G>A", "protein_change": null, "transcript_id": "NM_000115.3", "dbsnp_id": "NA", "variant_effect": "intronic" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI897" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1946/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1946/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1946/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1946/gene/?format=api" }, "data": { "type": "Gene", "id": "EDNRB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1946/?format=api" } }, { "type": "SmallVariant", "id": "76", "attributes": { "frequencies": { "KGP_genomes_maf": 0.005, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0159, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0129, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.01004, "gnomad_AFR_maf": 0.001791, "gnomad_AMR_maf": 0.01211, "gnomad_ASJ_maf": 0.01481, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01995, "gnomad_NFE_maf": 0.0125, "gnomad_OTH_maf": 0.01231, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.002043, "ESP_EA_maf": 0.01384 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.995306, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 78475230, "genomic_position_hg38": 77901095, "chromosome": "13", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.974186", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Ser305Asn", "transcript_id": null, "dbsnp_id": "rs5352", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI035" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/76/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/76/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/76/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/76/gene/?format=api" }, "data": { "type": "Gene", "id": "EDNRB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/76/?format=api" } }, { "type": "SmallVariant", "id": "1932", "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": 2.402e-05, "gnomad_AFR_maf": 6.17e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.461e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.776e-05, "gnomad_OTH_maf": 0.000165, "gnomad_SAS_maf": 3.269e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.584057, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 78472363, "genomic_position_hg38": 77898228, "chromosome": "13", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:52.204690", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1571G>A", "protein_change": "p.Arg524His", "transcript_id": "NM_001201397.1", "dbsnp_id": "rs201243241", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI887" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1932/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1932/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1932/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1932/gene/?format=api" }, "data": { "type": "Gene", "id": "EDNRB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1932/?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 } }