Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/GJB3/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "875", "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": "1", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:00:59.847889", "ref_allele": null, "alt_allele": null, "cdna_change": "c.284C>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI406" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/875/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/875/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/875/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/875/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/875/?format=api" } }, { "type": "SmallVariant", "id": "281", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.005, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0003899, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001156, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.004567, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.796e-06, "gnomad_OTH_maf": 0.0003259, "gnomad_SAS_maf": 0.0002287, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.235808, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 35250613, "genomic_position_hg38": 34785012, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.177488", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.250G>A", "protein_change": "p.Val84Ile", "transcript_id": "NM_001005752.1", "dbsnp_id": "rs145751680", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI135" }, { "type": "Combination", "id": "OLI136" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/281/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/281/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/281/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/281/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/281/?format=api" } }, { "type": "SmallVariant", "id": "375", "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": 7.957e-06, "gnomad_AFR_maf": 6.155e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.152144, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 35250860, "genomic_position_hg38": 34785259, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.717430", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.497A>G", "protein_change": "p.Asn166Ser", "transcript_id": "NM_001005752.1", "dbsnp_id": "rs121908851", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI192" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/375/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/375/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/375/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/375/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/375/?format=api" } }, { "type": "SmallVariant", "id": "377", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0069, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0008393, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.001091, "gnomad_EAS_maf": 0.00696, "gnomad_FIN_maf": 0.001296, "gnomad_NFE_maf": 0.0002902, "gnomad_OTH_maf": 0.0003258, "gnomad_SAS_maf": 0.0002613, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.953275, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 35250943, "genomic_position_hg38": 34785342, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.729928", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.580G>A", "protein_change": "p.Ala194Thr", "transcript_id": "NM_001005752.1", "dbsnp_id": "rs117385606", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI193" }, { "type": "Combination", "id": "OLI194" }, { "type": "Combination", "id": "OLI252" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/377/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/377/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/377/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/377/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/377/?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": 4 } }