Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1565/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3294", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0019, "KGP_genomes_AFR_maf": 0.007, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.000725, "gnomad_AFR_maf": 0.007695, "gnomad_AMR_maf": 0.0003969, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0002971, "gnomad_SAS_maf": 9.227e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.377497, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 13778623, "genomic_position_hg38": 13760504, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.253252", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.2044A>C", "protein_change": "p.Ile682Leu", "transcript_id": "NM_003611", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1565" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3294/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3294/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3294/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3294/gene/?format=api" }, "data": { "type": "Gene", "id": "OFD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3294/?format=api" } }, { "type": "SmallVariant", "id": "3295", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.919792, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 27237960, "genomic_position_hg38": 27198341, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.259331", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1024G>A", "protein_change": "p.Ala342Thr", "transcript_id": "NM_000522", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1565" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3295/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3295/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3295/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3295/gene/?format=api" }, "data": { "type": "Gene", "id": "HOXA13" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3295/?format=api" } }, { "type": "SmallVariant", "id": "3296", "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": 1.591e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.784e-05, "gnomad_ASJ_maf": 9.927e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.797e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.176904, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 76735849, "genomic_position_hg38": 74976091, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.265353", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1754C>T", "protein_change": "p.Ala585Val", "transcript_id": "NM_012330", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1565" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3296/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3296/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3296/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3296/gene/?format=api" }, "data": { "type": "Gene", "id": "KAT6B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3296/?format=api" } }, { "type": "SmallVariant", "id": "3297", "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": 1.125e-05, "gnomad_AFR_maf": 0.0001535, "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": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.271914, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 14883245, "genomic_position_hg38": 14865123, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.271385", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.388A>G", "protein_change": "p.Met130Val", "transcript_id": "NM_001018113", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1565" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3297/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3297/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3297/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3297/gene/?format=api" }, "data": { "type": "Gene", "id": "FANCB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3297/?format=api" } }, { "type": "SmallVariant", "id": "3298", "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": 1.988e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002718, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 0.16275, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 31009478, "genomic_position_hg38": 30969863, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.277420", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.269-4C>T", "protein_change": null, "transcript_id": "NM_000823", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1565" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3298/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3298/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3298/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3298/gene/?format=api" }, "data": { "type": "Gene", "id": "GHRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3298/?format=api" } }, { "type": "SmallVariant", "id": "3299", "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": 4.09726, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 139930424, "genomic_position_hg38": 140550839, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.283442", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.536T>C", "protein_change": "p.Ile179Thr", "transcript_id": "NM_001035235", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1565" }, { "type": "Combination", "id": "OLI1580" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3299/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3299/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3299/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3299/gene/?format=api" }, "data": { "type": "Gene", "id": "SRA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3299/?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": 6 } }