Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI804/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1765", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0445, "KGP_genomes_AFR_maf": 0.0477, "KGP_genomes_AMR_maf": 0.0375, "KGP_genomes_EAS_maf": 0.0149, "KGP_genomes_EUR_maf": 0.0845, "KGP_genomes_SAS_maf": 0.0348, "gnomad_maf": 0.06122, "gnomad_AFR_maf": 0.05124, "gnomad_AMR_maf": 0.03521, "gnomad_ASJ_maf": 0.06379, "gnomad_EAS_maf": 0.01751, "gnomad_FIN_maf": 0.1215, "gnomad_NFE_maf": 0.07322, "gnomad_OTH_maf": 0.06678, "gnomad_SAS_maf": 0.03305, "ESP_AA_maf": 0.05394, "ESP_EA_maf": 0.0693 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.720904, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 23200923, "genomic_position_hg38": 23189602, "chromosome": "16", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:51.184197", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.549C>T", "protein_change": "p.Gly183=", "transcript_id": "NM_001039.3", "dbsnp_id": "rs5737", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI802" }, { "type": "Combination", "id": "OLI804" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1765/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1765/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1765/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1765/gene/?format=api" }, "data": { "type": "Gene", "id": "SCNN1G" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1765/?format=api" } }, { "type": "SmallVariant", "id": "1768", "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": 0.0001472, "gnomad_AFR_maf": 0.0001847, "gnomad_AMR_maf": 0.0005204, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001056, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": 0.0004552, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.813076, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23391887, "genomic_position_hg38": 23380566, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.203628", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1688G>A", "protein_change": "p.Arg563Gln", "transcript_id": "NM_000336.2", "dbsnp_id": "rs149868979", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI804" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1768/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1768/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1768/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1768/gene/?format=api" }, "data": { "type": "Gene", "id": "SCNN1B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1768/?format=api" } }, { "type": "SmallVariant", "id": "1769", "attributes": { "frequencies": { "KGP_genomes_maf": 0.004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0169, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.01113, "gnomad_AFR_maf": 0.002892, "gnomad_AMR_maf": 0.00379, "gnomad_ASJ_maf": 0.008436, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01779, "gnomad_NFE_maf": 0.01841, "gnomad_OTH_maf": 0.008803, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": 0.004539, "ESP_EA_maf": 0.01628 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.030275, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 94844947, "genomic_position_hg38": 94378610, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.210082", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1096G>A", "protein_change": "p.Glu366Lys", "transcript_id": "NM_001127700.1", "dbsnp_id": "rs28929474", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI804" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1769/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1769/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1769/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1769/gene/?format=api" }, "data": { "type": "Gene", "id": "SERPINA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1769/?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 } }