Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1307/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "539", "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": 3.977e-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": 8.794e-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": "Benign", "cadd_prediction": 2.473452, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 31202752, "genomic_position_hg38": 31191431, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.688183", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1574C>T", "protein_change": "p.Pro525Leu", "transcript_id": "NM_004960.3", "dbsnp_id": "rs886041390", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI1306" }, { "type": "Combination", "id": "OLI1307" }, { "type": "Combination", "id": "OLI278" }, { "type": "Combination", "id": "OLI945" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/539/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/539/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/539/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/539/gene/?format=api" }, "data": { "type": "Gene", "id": "FUS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/539/?format=api" } }, { "type": "SmallVariant", "id": "2746", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.934618, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2969625, "genomic_position_hg38": 2929991, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.992635", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1653+1G>A", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1307" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2746/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2746/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2746/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2746/gene/?format=api" }, "data": { "type": "Gene", "id": "CARD11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2746/?format=api" } }, { "type": "SmallVariant", "id": "2747", "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": 0.0002346, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.782e-05, "gnomad_ASJ_maf": 0.002579, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.239e-05, "gnomad_NFE_maf": 0.0002285, "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": "Possibly Damaging", "cadd_prediction": 3.682914, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 46958352, "genomic_position_hg38": 46924440, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.998684", "ref_allele": "G", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Asp422Tyr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1307" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2747/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2747/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2747/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2747/gene/?format=api" }, "data": { "type": "Gene", "id": "GPT2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2747/?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 } }