Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/ANO5/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "30", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0008869, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.001012, "gnomad_ASJ_maf": 0.001389, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.001082, "gnomad_OTH_maf": 0.001629, "gnomad_SAS_maf": 0.001339, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.000814 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.14412, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 22294441, "genomic_position_hg38": 22272895, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.693170", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.2141C>G", "protein_change": "p.Thr714Ser", "transcript_id": "NM_213599.2", "dbsnp_id": "rs200631556", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI016" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/30/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/30/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/30/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/30/gene/?format=api" }, "data": { "type": "Gene", "id": "ANO5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/30/?format=api" } }, { "type": "SmallVariant", "id": "32", "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": 2.766971, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 22242647, "genomic_position_hg38": 22221101, "chromosome": "11", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:40.706037", "ref_allele": "A", "alt_allele": "AA", "cdna_change": "c.191dup", "protein_change": "p.Asn64LysfsTer15", "transcript_id": "NM_213599.3", "dbsnp_id": "rs13785452", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI016" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/32/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/32/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/32/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/32/gene/?format=api" }, "data": { "type": "Gene", "id": "ANO5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/32/?format=api" } }, { "type": "SmallVariant", "id": "33", "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": 2.397e-05, "gnomad_AFR_maf": 0.0003078, "gnomad_AMR_maf": 2.898e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0006809, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.113393, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 22296154, "genomic_position_hg38": 22274608, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.712485", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2272C>T", "protein_change": "p.Arg758Cys", "transcript_id": "NM_213599.2", "dbsnp_id": "rs142231956", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI017" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/33/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/33/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/33/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/33/gene/?format=api" }, "data": { "type": "Gene", "id": "ANO5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/33/?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 } }