Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/PDE6B/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3034", "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": 5.579e-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": 7.058e-05, "gnomad_OTH_maf": 0.0004896, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.182286, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 656373, "genomic_position_hg38": 662584, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.722733", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1798G>A", "protein_change": "p.Asp600Asn", "transcript_id": "NM_000283.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1444" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3034/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3034/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3034/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3034/gene/?format=api" }, "data": { "type": "Gene", "id": "PDE6B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3034/?format=api" } }, { "type": "SmallVariant", "id": "3043", "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": 0.0001997, "gnomad_AFR_maf": 0.0001533, "gnomad_AMR_maf": 0.0001261, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003814, "gnomad_OTH_maf": 0.0001814, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.129481, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 619707, "genomic_position_hg38": 625918, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.779374", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.292C>T", "protein_change": "p.Arg98Cys", "transcript_id": "NM_000283.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1450" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3043/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3043/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3043/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3043/gene/?format=api" }, "data": { "type": "Gene", "id": "PDE6B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3043/?format=api" } }, { "type": "SmallVariant", "id": "3051", "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": 3.993e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.674e-05, "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.080759, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 649791, "genomic_position_hg38": 656002, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.823050", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1055G>T", "protein_change": "p.Gly352Val", "transcript_id": "NM_000283.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1453" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3051/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3051/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3051/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3051/gene/?format=api" }, "data": { "type": "Gene", "id": "PDE6B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3051/?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 } }