Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI996/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2159", "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": 4.133302, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66943556, "genomic_position_hg38": 67723714, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.583535", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.2636T>G", "protein_change": "p.Phe879Cys", "transcript_id": "NM_000044.6", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI996" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2159/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2159/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2159/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2159/gene/?format=api" }, "data": { "type": "Gene", "id": "AR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2159/?format=api" } }, { "type": "SmallVariant", "id": "2160", "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": 0.269242, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 50213362, "genomic_position_hg38": 50470363, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.588994", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.316G>A", "protein_change": "p.Ala106Thr", "transcript_id": "NM_001013742.4", "dbsnp_id": "rs1200595728", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI996" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2160/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2160/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2160/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2160/gene/?format=api" }, "data": { "type": "Gene", "id": "DGKK" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2160/?format=api" } }, { "type": "SmallVariant", "id": "2161", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 9.157e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001196, "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -1.179784, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 110834507, "genomic_position_hg38": 109913351, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.594289", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.16A>G", "protein_change": "p.Ile6Val", "transcript_id": "NM_001963.6", "dbsnp_id": "rs184863742", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI996" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2161/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2161/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2161/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2161/gene/?format=api" }, "data": { "type": "Gene", "id": "EGF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2161/?format=api" } }, { "type": "SmallVariant", "id": "2162", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 8.008e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001087, "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": "Damaging", "cadd_prediction": 2.687239, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2910316, "genomic_position_hg38": 2801150, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.599468", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1066C>T", "protein_change": "p.Leu356Phe", "transcript_id": "NM_002014.4", "dbsnp_id": "rs199705099", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI996" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2162/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2162/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2162/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2162/gene/?format=api" }, "data": { "type": "Gene", "id": "FKBP4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2162/?format=api" } }, { "type": "SmallVariant", "id": "2163", "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": 9.957e-05, "gnomad_AFR_maf": 6.156e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001251, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.487996, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 35260541, "genomic_position_hg38": 34794940, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.604704", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.727C>T", "protein_change": "p.Arg243Trp", "transcript_id": "NM_002060.3", "dbsnp_id": "rs756684982", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1002" }, { "type": "Combination", "id": "OLI996" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2163/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2163/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2163/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2163/gene/?format=api" }, "data": { "type": "Gene", "id": "GJA4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2163/?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": 5 } }