Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI585/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1240", "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": 3.696382, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 81610320, "genomic_position_hg38": 81143976, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.952833", "ref_allele": "A", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Ile640Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI585" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1240/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1240/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1240/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1240/gene/?format=api" }, "data": { "type": "Gene", "id": "TSHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1240/?format=api" } }, { "type": "SmallVariant", "id": "1241", "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": 1.592e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.892e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.442e-05, "gnomad_FIN_maf": 4.656e-05, "gnomad_NFE_maf": 8.796e-06, "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": 4.238553, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 81609958, "genomic_position_hg38": 81143614, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.958917", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg519His", "transcript_id": null, "dbsnp_id": "rs780018604", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI585" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1241/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1241/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1241/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1241/gene/?format=api" }, "data": { "type": "Gene", "id": "TSHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1241/?format=api" } }, { "type": "SmallVariant", "id": "1242", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0084, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0149, "KGP_genomes_SAS_maf": 0.0215, "gnomad_maf": 0.01667, "gnomad_AFR_maf": 0.002399, "gnomad_AMR_maf": 0.003527, "gnomad_ASJ_maf": 0.00774, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.03915, "gnomad_NFE_maf": 0.02003, "gnomad_OTH_maf": 0.01353, "gnomad_SAS_maf": 0.02434, "ESP_AA_maf": 0.002724, "ESP_EA_maf": 0.01849 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.886122, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 4117942, "genomic_position_hg38": 4117942, "chromosome": "9", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:47.965011", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1536C>A", "protein_change": "p.Asp512Glu", "transcript_id": "NM_001042413.2", "dbsnp_id": "rs148199056", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI585" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1242/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1242/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1242/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1242/gene/?format=api" }, "data": { "type": "Gene", "id": "GLIS3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1242/?format=api" } }, { "type": "SmallVariant", "id": "1243", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0086, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0101, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.0307, "gnomad_maf": 0.008331, "gnomad_AFR_maf": 0.0016, "gnomad_AMR_maf": 0.002315, "gnomad_ASJ_maf": 0.02056, "gnomad_EAS_maf": 0.0001088, "gnomad_FIN_maf": 0.0006007, "gnomad_NFE_maf": 0.007561, "gnomad_OTH_maf": 0.007516, "gnomad_SAS_maf": 0.0281, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.00907 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.068256, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 107341628, "genomic_position_hg38": 107701183, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.971058", "ref_allele": "T", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Leu597Ser", "transcript_id": null, "dbsnp_id": "rs55638457", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI585" }, { "type": "Combination", "id": "OLI590" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1243/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1243/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1243/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1243/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC26A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1243/?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) 2026 · 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 } }