Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/HSD17B3/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3185", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.85283, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 99003183, "genomic_position_hg38": 96240901, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.589223", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.679A>G", "protein_change": "p.Thr227Ala", "transcript_id": "NM_000197", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1519" }, { "type": "Combination", "id": "OLI1521" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3185/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3185/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3185/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3185/gene/?format=api" }, "data": { "type": "Gene", "id": "HSD17B3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3185/?format=api" } }, { "type": "SmallVariant", "id": "3215", "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": 1.193e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.637e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.203242, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 99006642, "genomic_position_hg38": 96244360, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.768606", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.641A>G", "protein_change": "p.Glu214Gly", "transcript_id": "NM_000197", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1531" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3215/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3215/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3215/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3215/gene/?format=api" }, "data": { "type": "Gene", "id": "HSD17B3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3215/?format=api" } }, { "type": "SmallVariant", "id": "3237", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 6.363e-05, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.438e-05, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 7.913e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.878125, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 99064248, "genomic_position_hg38": 96301966, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.906686", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.139A>G", "protein_change": "p.Met47Val", "transcript_id": "NM_000197", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1541" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3237/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3237/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3237/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3237/gene/?format=api" }, "data": { "type": "Gene", "id": "HSD17B3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3237/?format=api" } }, { "type": "SmallVariant", "id": "3283", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.742416, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 99012046, "genomic_position_hg38": 96249764, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.186261", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.476C>A", "protein_change": "p.Thr159Asn", "transcript_id": "NM_000197", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1562" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3283/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3283/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3283/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3283/gene/?format=api" }, "data": { "type": "Gene", "id": "HSD17B3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3283/?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 } }