Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/FGFR3/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1152", "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": 4.023e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001645, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0002289, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.740999, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1807579, "genomic_position_hg38": 1805852, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:47.447904", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.1412A>T", "protein_change": "p.Lys471Met", "transcript_id": "NM_022965.4", "dbsnp_id": "rs769341070", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI553" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1152/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1152/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1152/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1152/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1152/?format=api" } }, { "type": "SmallVariant", "id": "3209", "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": 0.0001799, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0003188, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002924, "gnomad_OTH_maf": 0.0001638, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.092511, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1807820, "genomic_position_hg38": 1806093, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.731635", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1885G>A", "protein_change": "p.Glu629Lys", "transcript_id": "NM_001163213", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1528" }, { "type": "Combination", "id": "OLI1538" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3209/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3209/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3209/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3209/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3209/?format=api" } }, { "type": "SmallVariant", "id": "3276", "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": 8.09e-05, "gnomad_AFR_maf": 0.000319, "gnomad_AMR_maf": 0.0002613, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.491e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.601e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.274e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.883387, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1807161, "genomic_position_hg38": 1805434, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.143404", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1498C>T", "protein_change": "p.Arg500Trp", "transcript_id": "NM_001163213", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1558" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3276/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3276/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3276/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3276/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3276/?format=api" } }, { "type": "SmallVariant", "id": "3333", "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": 4.473e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.814e-05, "gnomad_FIN_maf": 0.0, "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.000914, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1808901, "genomic_position_hg38": 1807174, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.491224", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.2339C>G", "protein_change": "p.Pro780Arg", "transcript_id": "NM_001163213", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1580" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3333/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3333/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3333/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3333/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3333/?format=api" } }, { "type": "SmallVariant", "id": "3700", "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": 5.368702, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 1807384, "genomic_position_hg38": 1805657, "chromosome": "4", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:34.018401", "ref_allele": "TGC", "alt_allele": "C", "cdna_change": "c.1633_1634del", "protein_change": "p.Cys545HisfsTer17", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1745" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3700/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3700/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3700/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3700/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3700/?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": 5 } }