Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI085/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "170", "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": 0.000579, "gnomad_AFR_maf": 0.0003092, "gnomad_AMR_maf": 5.817e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.968e-05, "gnomad_NFE_maf": 0.001052, "gnomad_OTH_maf": 0.0008232, "gnomad_SAS_maf": 0.0003931, "ESP_AA_maf": 0.0007036, "ESP_EA_maf": 0.001212 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.432269, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76741493, "genomic_position_hg38": 76347713, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.518831", "ref_allele": "C", "alt_allele": "CA", "cdna_change": "c.271dup", "protein_change": "p.Cys91LeufsTer5", "transcript_id": "NM_024685.4", "dbsnp_id": "rs549625604", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI084" }, { "type": "Combination", "id": "OLI085" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/170/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/170/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/170/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/170/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/170/?format=api" } }, { "type": "SmallVariant", "id": "172", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00521, "gnomad_AFR_maf": 0.001358, "gnomad_AMR_maf": 0.00185, "gnomad_ASJ_maf": 0.001093, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.004157, "gnomad_NFE_maf": 0.00969, "gnomad_OTH_maf": 0.003436, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.001816, "ESP_EA_maf": 0.005814 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.840462, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 10393439, "genomic_position_hg38": 10412791, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.531136", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.724G>T", "protein_change": "p.Ala242Ser", "transcript_id": "NM_018848.3", "dbsnp_id": "rs74315394", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 10 }, "data": [ { "type": "Combination", "id": "OLI085" }, { "type": "Combination", "id": "OLI170" }, { "type": "Combination", "id": "OLI171" }, { "type": "Combination", "id": "OLI177" }, { "type": "Combination", "id": "OLI225" }, { "type": "Combination", "id": "OLI614" }, { "type": "Combination", "id": "OLI1436" }, { "type": "Combination", "id": "OLI1437" }, { "type": "Combination", "id": "OLI084" }, { "type": "Combination", "id": "OLI1435" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/172/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/172/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/172/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/172/gene/?format=api" }, "data": { "type": "Gene", "id": "MKKS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/172/?format=api" } }, { "type": "SmallVariant", "id": "173", "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": 3.979e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 1.330937, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76740535, "genomic_position_hg38": 76346755, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.537507", "ref_allele": "A", "alt_allele": "C", "cdna_change": null, "protein_change": "p.His410Gln", "transcript_id": null, "dbsnp_id": "rs1447555059", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI085" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/173/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/173/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/173/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/173/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/173/?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 } }