Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI583/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1234", "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": 0.0001991, "gnomad_AFR_maf": 6.157e-05, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.629e-05, "gnomad_NFE_maf": 0.0003966, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002327 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.834291, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45397999, "genomic_position_hg38": 45105801, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.916432", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg726Trp", "transcript_id": null, "dbsnp_id": "rs141573582", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI583" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1234/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1234/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1234/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1234/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1234/?format=api" } }, { "type": "SmallVariant", "id": "1235", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0078, "KGP_genomes_AFR_maf": 0.028, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00154, "gnomad_AFR_maf": 0.02404, "gnomad_AMR_maf": 0.001396, "gnomad_ASJ_maf": 0.0001108, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.41e-05, "gnomad_OTH_maf": 0.0009819, "gnomad_SAS_maf": 7.265e-05, "ESP_AA_maf": 0.01682, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.987147, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 4118352, "genomic_position_hg38": 4118352, "chromosome": "9", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:47.922542", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1126C>T", "protein_change": "p.Pro376Ser", "transcript_id": "NM_001042413.2", "dbsnp_id": "rs76342955", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI583" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1235/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1235/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1235/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1235/gene/?format=api" }, "data": { "type": "Gene", "id": "GLIS3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1235/?format=api" } }, { "type": "SmallVariant", "id": "1236", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001534, "gnomad_AFR_maf": 0.0003884, "gnomad_AMR_maf": 0.001852, "gnomad_ASJ_maf": 0.0003148, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001327, "gnomad_NFE_maf": 0.002446, "gnomad_OTH_maf": 0.002667, "gnomad_SAS_maf": 0.0004037, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.094554, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 4118388, "genomic_position_hg38": 4118388, "chromosome": "9", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:47.928757", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1090C>T", "protein_change": "p.Pro364Ser", "transcript_id": "NM_001042413.2", "dbsnp_id": "rs143056249", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI583" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1236/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1236/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1236/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1236/gene/?format=api" }, "data": { "type": "Gene", "id": "GLIS3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1236/?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 } }