Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/CCNF/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1380", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0032, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0119, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.009644, "gnomad_AFR_maf": 0.002833, "gnomad_AMR_maf": 0.001911, "gnomad_ASJ_maf": 0.003783, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.02289, "gnomad_NFE_maf": 0.01507, "gnomad_OTH_maf": 0.007682, "gnomad_SAS_maf": 0.0006861, "ESP_AA_maf": 0.00273, "ESP_EA_maf": 0.01465 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.448355, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2506800, "genomic_position_hg38": 2456799, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.751772", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2140G>A", "protein_change": "p.Val714Met", "transcript_id": "NM_001761.2", "dbsnp_id": "rs61755288", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI634" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1380/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1380/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1380/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1380/gene/?format=api" }, "data": { "type": "Gene", "id": "CCNF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1380/?format=api" } }, { "type": "SmallVariant", "id": "1811", "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": 1.99e-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": 4.398e-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": "Damaging", "cadd_prediction": 3.842098, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2485844, "genomic_position_hg38": 2435843, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.437408", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.316C>G", "protein_change": "p.Leu106Val", "transcript_id": "NM_001761.2", "dbsnp_id": "rs990719669", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI825" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1811/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1811/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1811/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1811/gene/?format=api" }, "data": { "type": "Gene", "id": "CCNF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1811/?format=api" } }, { "type": "SmallVariant", "id": "2059", "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": 5.229e-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": 8.847e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.826e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.020733, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2487264, "genomic_position_hg38": 2437263, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.981214", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.481G>A", "protein_change": "p.Gly161Arg", "transcript_id": "NM_001761", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI953" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2059/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2059/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2059/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2059/gene/?format=api" }, "data": { "type": "Gene", "id": "CCNF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2059/?format=api" } }, { "type": "SmallVariant", "id": "2192", "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": 0.890732, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2488121, "genomic_position_hg38": 2438120, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.783174", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.591C>G", "protein_change": "p.Phe197Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1010" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2192/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2192/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2192/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2192/gene/?format=api" }, "data": { "type": "Gene", "id": "CCNF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2192/?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": 4 } }