Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SMC1B/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "189", "attributes": { "frequencies": { "KGP_genomes_maf": 0.011, "KGP_genomes_AFR_maf": 0.0408, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002639, "gnomad_AFR_maf": 0.03838, "gnomad_AMR_maf": 0.001594, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.535e-05, "gnomad_OTH_maf": 0.0006607, "gnomad_SAS_maf": 3.27e-05, "ESP_AA_maf": 0.04096, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.203528, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45741416, "genomic_position_hg38": 45345535, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.630034", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.3530A>T", "protein_change": "p.Gln1177Leu", "transcript_id": "NM_148674.4", "dbsnp_id": "rs61737925", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI092" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/189/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/189/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/189/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/189/gene/?format=api" }, "data": { "type": "Gene", "id": "SMC1B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/189/?format=api" } }, { "type": "SmallVariant", "id": "191", "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": 8.019e-06, "gnomad_AFR_maf": 6.458e-05, "gnomad_AMR_maf": 2.9e-05, "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": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.506123, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45798405, "genomic_position_hg38": 45402525, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.642108", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.662T>C", "protein_change": "p.Ile221Thr", "transcript_id": "NM_001291501.1", "dbsnp_id": "rs755292878", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI093" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/191/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/191/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/191/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/191/gene/?format=api" }, "data": { "type": "Gene", "id": "SMC1B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/191/?format=api" } }, { "type": "SmallVariant", "id": "3656", "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": 1.285e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001767, "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.807928, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45795225, "genomic_position_hg38": 45399345, "chromosome": "22", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.439739", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.863A>G", "protein_change": "p.Glu288Gly", "transcript_id": "NM_148674.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1722" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3656/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3656/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3656/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3656/gene/?format=api" }, "data": { "type": "Gene", "id": "SMC1B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3656/?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": 3 } }