Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/FREM2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "715", "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": 2.387e-05, "gnomad_AFR_maf": 0.0001231, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.439e-05, "gnomad_FIN_maf": 4.62e-05, "gnomad_NFE_maf": 1.76e-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": 3.384237, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 39450454, "genomic_position_hg38": 38876317, "chromosome": "13", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.757393", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.8479C>T", "protein_change": "p.Arg2827Cys", "transcript_id": "NM_207361.5", "dbsnp_id": "rs774259178", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI342" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/715/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/715/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/715/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/715/gene/?format=api" }, "data": { "type": "Gene", "id": "FREM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/715/?format=api" } }, { "type": "SmallVariant", "id": "749", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0058, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0288, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001508, "gnomad_AFR_maf": 0.0003076, "gnomad_AMR_maf": 0.0001157, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.01886, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.639e-05, "gnomad_OTH_maf": 0.001306, "gnomad_SAS_maf": 0.0003921, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.920805, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 39266397, "genomic_position_hg38": 38692260, "chromosome": "13", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.975628", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4916G>A", "protein_change": "p.Arg1639Lys", "transcript_id": "NM_207361.5", "dbsnp_id": "rs77886481", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/749/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/749/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/749/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/749/gene/?format=api" }, "data": { "type": "Gene", "id": "FREM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/749/?format=api" } }, { "type": "SmallVariant", "id": "1320", "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": 4.470818, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 39454886, "genomic_position_hg38": 38880749, "chromosome": "13", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.446370", "ref_allele": "C", "alt_allele": "CC", "cdna_change": "c.9472dupC", "protein_change": "p.Gln3160ThrfsTer6", "transcript_id": "NM_207361.5", "dbsnp_id": "rs1566177559", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1320/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1320/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1320/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1320/gene/?format=api" }, "data": { "type": "Gene", "id": "FREM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1320/?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 } }