Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/CYP1A1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "738", "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": 0.0007319, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0006949, "gnomad_EAS_maf": 0.009297, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.000196, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.170064, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 75014921, "genomic_position_hg38": 74722580, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.904924", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.518C>G", "protein_change": "p.Thr173Arg", "transcript_id": "NM_000499.4", "dbsnp_id": "rs28399427", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI348" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/738/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/738/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/738/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/738/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP1A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/738/?format=api" } }, { "type": "SmallVariant", "id": "743", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.004, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0002983, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.003806, "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": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.316947, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 75013957, "genomic_position_hg38": 74721616, "chromosome": "15", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.936971", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.927C>T", "protein_change": "p.Asn309=", "transcript_id": "NM_000499.4", "dbsnp_id": "rs368742906", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI349" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/743/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/743/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/743/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/743/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP1A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/743/?format=api" } }, { "type": "SmallVariant", "id": "1269", "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": "Damaging", "cadd_prediction": 3.437761, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 75013544, "genomic_position_hg38": 74721203, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.119355", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1162C>G", "protein_change": "p.His388Asp", "transcript_id": "NM_000499.4", "dbsnp_id": "rs1567195814", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1269/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1269/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1269/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1269/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP1A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1269/?format=api" } }, { "type": "SmallVariant", "id": "1296", "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": -0.469015, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 75013066, "genomic_position_hg38": 74720725, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.288717", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1303C>A", "protein_change": "p.Arg435Ser", "transcript_id": "NM_001319216.1", "dbsnp_id": "rs2063161723", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI602" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1296/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1296/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1296/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1296/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP1A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1296/?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 } }