Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1166/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2505", "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": 6.242447, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619712, "genomic_position_hg38": 67753994, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.648595", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.342C>A", "protein_change": "p.Cys114Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1166" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2505/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2505/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2505/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2505/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2505/?format=api" } }, { "type": "SmallVariant", "id": "387", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.001786, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0002313, "gnomad_ASJ_maf": 9.934e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.005314, "gnomad_NFE_maf": 0.002147, "gnomad_OTH_maf": 0.002124, "gnomad_SAS_maf": 0.002156, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.002209 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.259471, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68606400, "genomic_position_hg38": 67740682, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.792733", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.785G>A", "protein_change": "p.Arg262Gln", "transcript_id": "NM_000406.2", "dbsnp_id": "rs104893837", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI1166" }, { "type": "Combination", "id": "OLI1403" }, { "type": "Combination", "id": "OLI1590" }, { "type": "Combination", "id": "OLI198" }, { "type": "Combination", "id": "OLI199" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/387/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/387/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/387/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/387/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/387/?format=api" } }, { "type": "SmallVariant", "id": "2506", "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": 0.436174, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 95757703, "genomic_position_hg38": 96421999, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.654711", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.544-43T>G", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1166" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2506/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2506/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2506/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2506/gene/?format=api" }, "data": { "type": "Gene", "id": "PCSK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2506/?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 } }