Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1585/variants/?format=api
{ "data": [ { "type": "CopyNumberVariant", "id": "3336", "attributes": { "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "18", "annotation_flag": "cnv", "lastmodified": "2023-05-16T12:03:08.180649", "location": null, "sequence": "GGCCTGCCTCCGTCCCGCCGCGCCACTT", "number_of_repeats": "{\"empty\": true}", "type_cnv": "repeat" }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI1582" }, { "type": "Combination", "id": "OLI1583" }, { "type": "Combination", "id": "OLI1584" }, { "type": "Combination", "id": "OLI1585" }, { "type": "Combination", "id": "OLI1586" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3336/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3336/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "TYMS" }, "links": { "related": "https://olida.ibsquare.be/api/genes/TYMS/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3336/?format=api" } }, { "type": "SmallVariant", "id": "3337", "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": 0.315635, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 657685, "genomic_position_hg38": 657685, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.509992", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.-58G>C", "protein_change": null, "transcript_id": "NM_001071.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI1582" }, { "type": "Combination", "id": "OLI1583" }, { "type": "Combination", "id": "OLI1584" }, { "type": "Combination", "id": "OLI1585" }, { "type": "Combination", "id": "OLI1586" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3337/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3337/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3337/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3337/gene/?format=api" }, "data": { "type": "Gene", "id": "TYMS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3337/?format=api" } }, { "type": "SmallVariant", "id": "3346", "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": null, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 669151, "genomic_position_hg38": 669151, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.566291", "ref_allele": "A", "alt_allele": "ATG", "cdna_change": "c.534_535insTG", "protein_change": "p.Met179Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1585" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3346/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3346/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3346/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3346/gene/?format=api" }, "data": { "type": "Gene", "id": "TYMS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3346/?format=api" } }, { "type": "SmallVariant", "id": "3339", "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": 0.212835, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 673086, "genomic_position_hg38": 673086, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.522453", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.*1219T>A", "protein_change": null, "transcript_id": "NM_017512.7", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI1582" }, { "type": "Combination", "id": "OLI1583" }, { "type": "Combination", "id": "OLI1584" }, { "type": "Combination", "id": "OLI1585" }, { "type": "Combination", "id": "OLI1586" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3339/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3339/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3339/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3339/gene/?format=api" }, "data": { "type": "Gene", "id": "ENOSF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3339/?format=api" } }, { "type": "SmallVariant", "id": "3340", "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": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 673452, "genomic_position_hg38": 673452, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.528735", "ref_allele": "AAGTTA", "alt_allele": "AAGTTAAAGTTA", "cdna_change": "c.*450_*455dup", "protein_change": null, "transcript_id": "NM_001071.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI1582" }, { "type": "Combination", "id": "OLI1583" }, { "type": "Combination", "id": "OLI1584" }, { "type": "Combination", "id": "OLI1585" }, { "type": "Combination", "id": "OLI1586" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3340/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3340/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3340/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3340/gene/?format=api" }, "data": { "type": "Gene", "id": "TYMS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3340/?format=api" } }, { "type": "SmallVariant", "id": "3341", "attributes": { "frequencies": { "KGP_genomes_maf": 0.6506, "KGP_genomes_AFR_maf": 0.8048, "KGP_genomes_AMR_maf": 0.6239, "KGP_genomes_EAS_maf": 0.7044, "KGP_genomes_EUR_maf": 0.5408, "KGP_genomes_SAS_maf": 0.5184, "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": -0.110365, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 683607, "genomic_position_hg38": 683607, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.535005", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.742-227G>A", "protein_change": null, "transcript_id": "NM_017512.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI1582" }, { "type": "Combination", "id": "OLI1583" }, { "type": "Combination", "id": "OLI1584" }, { "type": "Combination", "id": "OLI1585" }, { "type": "Combination", "id": "OLI1586" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3341/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3341/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3341/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3341/gene/?format=api" }, "data": { "type": "Gene", "id": "ENOSF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3341/?format=api" } }, { "type": "SmallVariant", "id": "3347", "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": 0.79092, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 654556, "genomic_position_hg38": 654556, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.572439", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1585" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3347/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3347/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3347/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3347/gene/?format=api" }, "data": { "type": "Gene", "id": "TYMSOS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3347/?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": 7 } }