Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI725/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1598", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0172, "KGP_genomes_AFR_maf": 0.0038, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0565, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.0184, "gnomad_maf": 0.01032, "gnomad_AFR_maf": 0.006337, "gnomad_AMR_maf": 0.0005206, "gnomad_ASJ_maf": 0.000893, "gnomad_EAS_maf": 0.05887, "gnomad_FIN_maf": 0.02601, "gnomad_NFE_maf": 0.0011, "gnomad_OTH_maf": 0.005711, "gnomad_SAS_maf": 0.02149, "ESP_AA_maf": 0.006128, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.106681, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 22394239, "genomic_position_hg38": 22392616, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.148095", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.2556A>C", "protein_change": "p.Lys852Asn", "transcript_id": "NM_145290.3", "dbsnp_id": "rs117922332", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI725" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1598/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1598/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1598/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1598/gene/?format=api" }, "data": { "type": "Gene", "id": "ADGRA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1598/?format=api" } }, { "type": "SmallVariant", "id": "1599", "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": 0.0006442, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.008644, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0004886, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.537923, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 36876729, "genomic_position_hg38": 36480682, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.154309", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.156A>G", "protein_change": "p.Ile52Met", "transcript_id": "NM_012473.3", "dbsnp_id": "rs146269725", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI725" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1599/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1599/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1599/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1599/gene/?format=api" }, "data": { "type": "Gene", "id": "TXN2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1599/?format=api" } }, { "type": "SmallVariant", "id": "1600", "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": 3.976e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "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": "Benign", "cadd_prediction": 3.019603, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 34883661, "genomic_position_hg38": 33511354, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.160585", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.2212G>C", "protein_change": "p.Val738Leu", "transcript_id": "NM_000819.4", "dbsnp_id": "rs1481538323", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI725" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1600/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1600/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1600/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1600/gene/?format=api" }, "data": { "type": "Gene", "id": "GART" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1600/?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 } }