Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/FGF8/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "385", "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": 3.431721, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 103534528, "genomic_position_hg38": 101774771, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:42.780395", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.298A>G", "protein_change": "p.Lys100Glu", "transcript_id": "NM_033163.5", "dbsnp_id": "rs137852662", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI197" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/385/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/385/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/385/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/385/gene/?format=api" }, "data": { "type": "Gene", "id": "FGF8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/385/?format=api" } }, { "type": "SmallVariant", "id": "859", "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": "Benign", "cadd_prediction": 1.011693, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 103534925, "genomic_position_hg38": 101775168, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.646674", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.118T>C", "protein_change": "p.Phe40Leu", "transcript_id": "NM_033164.3", "dbsnp_id": "rs137852661", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI397" }, { "type": "Combination", "id": "OLI409" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/859/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/859/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/859/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/859/gene/?format=api" }, "data": { "type": "Gene", "id": "FGF8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/859/?format=api" } }, { "type": "SmallVariant", "id": "880", "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": "Possibly Damaging", "cadd_prediction": 4.406645, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 103535498, "genomic_position_hg38": 101775741, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.769490", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.68A>T", "protein_change": "p.Gln23Leu", "transcript_id": "NM_033164.3", "dbsnp_id": "rs1279824419", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI410" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/880/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/880/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/880/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/880/gene/?format=api" }, "data": { "type": "Gene", "id": "FGF8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/880/?format=api" } }, { "type": "SmallVariant", "id": "1715", "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": 1.618e-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": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001307, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.80628, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 103530370, "genomic_position_hg38": 101770613, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:50.876933", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.451G>A", "protein_change": "p.Gly151Ser", "transcript_id": "NM_033163.5", "dbsnp_id": "rs606231407", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI779" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1715/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1715/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1715/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1715/gene/?format=api" }, "data": { "type": "Gene", "id": "FGF8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1715/?format=api" } }, { "type": "SmallVariant", "id": "2709", "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": 2.708e-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": 5.434e-05, "gnomad_OTH_maf": 0.0002373, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.986115, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103534945, "genomic_position_hg38": 101775188, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.768607", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.98G>T", "protein_change": "p.Gly33Val", "transcript_id": "NM_033163.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1286" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2709/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2709/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2709/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2709/gene/?format=api" }, "data": { "type": "Gene", "id": "FGF8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2709/?format=api" } }, { "type": "SmallVariant", "id": "2734", "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": 2.386e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.637e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.138234, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103531278, "genomic_position_hg38": 101771521, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.919769", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.386G>A", "protein_change": "p.Arg129Gln", "transcript_id": "NM_033163.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1303" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2734/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2734/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2734/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2734/gene/?format=api" }, "data": { "type": "Gene", "id": "FGF8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2734/?format=api" } }, { "type": "SmallVariant", "id": "2824", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "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": 0.0, "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": -0.031805, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103535729, "genomic_position_hg38": 101775972, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.460047", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.-72A>G", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1337" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2824/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2824/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2824/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2824/gene/?format=api" }, "data": { "type": "Gene", "id": "FGF8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2824/?format=api" } }, { "type": "SmallVariant", "id": "2994", "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": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 103534669, "genomic_position_hg38": 101774912, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.483663", "ref_allele": "ACAGTTAC", "alt_allele": "AC", "cdna_change": "c.159_164del", "protein_change": "p.Thr54_Val55del", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1424" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2994/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2994/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2994/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2994/gene/?format=api" }, "data": { "type": "Gene", "id": "FGF8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2994/?format=api" } }, { "type": "SmallVariant", "id": "3374", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "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": 0.001, "gnomad_maf": 0.001149, "gnomad_AFR_maf": 0.0001499, "gnomad_AMR_maf": 0.0004084, "gnomad_ASJ_maf": 0.005227, "gnomad_EAS_maf": 9.344e-05, "gnomad_FIN_maf": 0.00143, "gnomad_NFE_maf": 0.001191, "gnomad_OTH_maf": 0.0007177, "gnomad_SAS_maf": 0.001061, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.633101, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 103534966, "genomic_position_hg38": 101775209, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.741939", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.77C>T", "protein_change": "p.Pro26Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1599" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3374/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3374/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3374/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3374/gene/?format=api" }, "data": { "type": "Gene", "id": "FGF8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3374/?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) 2026 · 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": 9 } }