Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SRD5A2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "583", "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": 0.000474, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.006525, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.862e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.775865, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 31754395, "genomic_position_hg38": 31529325, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.918060", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg227Gln", "transcript_id": null, "dbsnp_id": "rs9332964", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI300" }, { "type": "Combination", "id": "OLI401" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/583/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/583/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/583/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/583/gene/?format=api" }, "data": { "type": "Gene", "id": "SRD5A2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/583/?format=api" } }, { "type": "SmallVariant", "id": "2172", "attributes": { "frequencies": { "KGP_genomes_maf": 0.3478, "KGP_genomes_AFR_maf": 0.7693, "KGP_genomes_AMR_maf": 0.6643, "KGP_genomes_EAS_maf": 0.4792, "KGP_genomes_EUR_maf": 0.7207, "KGP_genomes_SAS_maf": 0.593, "gnomad_maf": 0.6593, "gnomad_AFR_maf": 0.7458, "gnomad_AMR_maf": 0.6161, "gnomad_ASJ_maf": 0.7591, "gnomad_EAS_maf": 0.4464, "gnomad_FIN_maf": 0.6965, "gnomad_NFE_maf": 0.6965, "gnomad_OTH_maf": 0.6891, "gnomad_SAS_maf": 0.6117, "ESP_AA_maf": 0.7554, "ESP_EA_maf": 0.71 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 31805706, "genomic_position_hg38": 31580636, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.661321", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.265C>G", "protein_change": "p.Leu89Val", "transcript_id": "NM_000348.4", "dbsnp_id": "rs523349", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI999" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2172/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2172/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2172/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2172/gene/?format=api" }, "data": { "type": "Gene", "id": "SRD5A2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2172/?format=api" } }, { "type": "SmallVariant", "id": "2179", "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": 0.000474, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.006525, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.862e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.775865, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 31754395, "genomic_position_hg38": 31529325, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.709317", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.680G>A", "protein_change": "p.Arg227Gln", "transcript_id": "NM_000348.3", "dbsnp_id": "rs9332964", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1003" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2179/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2179/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2179/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2179/gene/?format=api" }, "data": { "type": "Gene", "id": "SRD5A2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2179/?format=api" } }, { "type": "SmallVariant", "id": "3182", "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": 1.48e-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": 3.43e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.437968, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 31756451, "genomic_position_hg38": 31531381, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.571689", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.537G>A", "protein_change": "p.Arg179Ser", "transcript_id": "NM_000348.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1518" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3182/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3182/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3182/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3182/gene/?format=api" }, "data": { "type": "Gene", "id": "SRD5A2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3182/?format=api" } }, { "type": "SmallVariant", "id": "3206", "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": 1.523586, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 31751324, "genomic_position_hg38": 31526254, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.719113", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.704A>T", "protein_change": "p.Tyr235Phe", "transcript_id": "NM_000348.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1527" }, { "type": "Combination", "id": "OLI1540" }, { "type": "Combination", "id": "OLI1546" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3206/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3206/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3206/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3206/gene/?format=api" }, "data": { "type": "Gene", "id": "SRD5A2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3206/?format=api" } }, { "type": "SmallVariant", "id": "3221", "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": 9.242e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001003, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.548e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.269e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.563901, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 31754468, "genomic_position_hg38": 31529398, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.806272", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.607G>A", "protein_change": "p.Gly203Ser", "transcript_id": "NM_000348.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1533" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3221/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3221/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3221/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3221/gene/?format=api" }, "data": { "type": "Gene", "id": "SRD5A2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3221/?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": 6 } }