Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1738/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3685", "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": "Possibly Damaging", "cadd_prediction": 3.957916, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8904945, "genomic_position_hg38": 8811088, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:33.592035", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.357C>G", "protein_change": "p.Phe119Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1738" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3685/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3685/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3685/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3685/gene/?format=api" }, "data": { "type": "Gene", "id": "PMM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3685/?format=api" } }, { "type": "SmallVariant", "id": "3686", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002944, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0002892, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0005366, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.08306, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8905517, "genomic_position_hg38": 8811660, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:33.604974", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.470T>C", "protein_change": "p.Phe157Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1738" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3686/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3686/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3686/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3686/gene/?format=api" }, "data": { "type": "Gene", "id": "PMM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3686/?format=api" } }, { "type": "SmallVariant", "id": "3687", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.004116, "gnomad_AFR_maf": 0.0009239, "gnomad_AMR_maf": 0.001012, "gnomad_ASJ_maf": 0.0005959, "gnomad_EAS_maf": 5.439e-05, "gnomad_FIN_maf": 0.004117, "gnomad_NFE_maf": 0.007579, "gnomad_OTH_maf": 0.003591, "gnomad_SAS_maf": 0.0001633, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.240089, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 135864513, "genomic_position_hg38": 132989126, "chromosome": "9", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:33.617636", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.576C>T", "protein_change": "p.Phe192=", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1738" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3687/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3687/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3687/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3687/gene/?format=api" }, "data": { "type": "Gene", "id": "GFI1B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3687/?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 } }