Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/FLNB/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "564", "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": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.281715, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 58090893, "genomic_position_hg38": 58105166, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.822344", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1697G>T", "protein_change": "p.Arg566Leu", "transcript_id": "NM_001457.3", "dbsnp_id": "rs150747960", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI292" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/564/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/564/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/564/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/564/gene/?format=api" }, "data": { "type": "Gene", "id": "FLNB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/564/?format=api" } }, { "type": "SmallVariant", "id": "566", "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": 7.954e-06, "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": 8.792e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.759813, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 58090892, "genomic_position_hg38": 58105165, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.832776", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1696C>T", "protein_change": "p.Arg566Trp", "transcript_id": "NM_001457.3", "dbsnp_id": "rs778577280", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI293" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/566/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/566/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/566/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/566/gene/?format=api" }, "data": { "type": "Gene", "id": "FLNB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/566/?format=api" } }, { "type": "SmallVariant", "id": "568", "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": 3.978e-06, "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": 8.795e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.752876, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 58141758, "genomic_position_hg38": 58156031, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.843077", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.6844G>A", "protein_change": "p.Ala2282Thr", "transcript_id": "NM_001457.3", "dbsnp_id": "rs1339176246", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI294" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/568/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/568/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/568/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/568/gene/?format=api" }, "data": { "type": "Gene", "id": "FLNB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/568/?format=api" } }, { "type": "SmallVariant", "id": "571", "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": "Damaging", "cadd_prediction": 4.24419, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 58090941, "genomic_position_hg38": 58105214, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.858746", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1745T>C", "protein_change": "p.Leu582Pro", "transcript_id": "NM_001457.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI295" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/571/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/571/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/571/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/571/gene/?format=api" }, "data": { "type": "Gene", "id": "FLNB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/571/?format=api" } }, { "type": "SmallVariant", "id": "573", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.006, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0005529, "gnomad_AFR_maf": 6.153e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.007231, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001633, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.705482, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 58109123, "genomic_position_hg38": 58123396, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.869475", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.3430G>C", "protein_change": "p.Glu1144Gln", "transcript_id": "NM_001457.3", "dbsnp_id": "rs199959926", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI296" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/573/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/573/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/573/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/573/gene/?format=api" }, "data": { "type": "Gene", "id": "FLNB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/573/?format=api" } }, { "type": "SmallVariant", "id": "577", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 4.38e-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": 2.643e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0002613, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.243282, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 58134496, "genomic_position_hg38": 58148769, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.890399", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg2003His", "transcript_id": null, "dbsnp_id": "rs563096120", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI298" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/577/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/577/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/577/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/577/gene/?format=api" }, "data": { "type": "Gene", "id": "FLNB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/577/?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 } }