Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1043/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2267", "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": 5.222e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.231e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.408177, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 71014800, "genomic_position_hg38": 70787668, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.230771", "ref_allele": "TC", "alt_allele": "T", "cdna_change": "c.364delG", "protein_change": "p.Glu122LysfsTer45", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1043" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2267/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2267/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2267/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2267/gene/?format=api" }, "data": { "type": "Gene", "id": "FIGLA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2267/?format=api" } }, { "type": "SmallVariant", "id": "2268", "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": 0.0006219, "ESP_EA_maf": 0.0004632 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 3.94439, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 144095522, "genomic_position_hg38": 144398429, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.237010", "ref_allele": "AG", "alt_allele": "A", "cdna_change": "c.1626delC", "protein_change": "p.Phe543SerfsTer7", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1043" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2268/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2268/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2268/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2268/gene/?format=api" }, "data": { "type": "Gene", "id": "NOBOX" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2268/?format=api" } }, { "type": "SmallVariant", "id": "2269", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "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": 0.0031, "gnomad_maf": 0.000131, "gnomad_AFR_maf": 6.958e-05, "gnomad_AMR_maf": 2.968e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001799, "gnomad_OTH_maf": 0.0003447, "gnomad_SAS_maf": 0.0002707, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002327 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.692173, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127253435, "genomic_position_hg38": 124491156, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.243161", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1063G>A", "protein_change": "p.Val355Met", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1043" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2269/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2269/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2269/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2269/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2269/?format=api" } }, { "type": "SmallVariant", "id": "2270", "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": 3.905344, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 124835222, "genomic_position_hg38": 124350676, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.249070", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.3755C>A", "protein_change": "p.Pro1252Gln", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1043" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2270/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2270/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2270/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2270/gene/?format=api" }, "data": { "type": "Gene", "id": "NCOR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2270/?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": 4 } }