Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1597/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3369", "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": 3.41649, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619704, "genomic_position_hg38": 67753986, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.710757", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.350T>G", "protein_change": "p.Leu117Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3369/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3369/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3369/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3369/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3369/?format=api" } }, { "type": "SmallVariant", "id": "3370", "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": 7.225938, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619788, "genomic_position_hg38": 67754070, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.716888", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.266T>A", "protein_change": "p.Leu89Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3370/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3370/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3370/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3370/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3370/?format=api" } }, { "type": "SmallVariant", "id": "2713", "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": "Benign", "cadd_prediction": 3.381543, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38275808, "genomic_position_hg38": 38418290, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.792696", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1368G>A", "protein_change": "p.Met456Ile", "transcript_id": "NM_023110.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1290" }, { "type": "Combination", "id": "OLI1597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2713/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2713/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2713/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2713/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2713/?format=api" } }, { "type": "SmallVariant", "id": "3371", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0041, "gnomad_maf": 0.004221, "gnomad_AFR_maf": 0.001292, "gnomad_AMR_maf": 0.001937, "gnomad_ASJ_maf": 0.001489, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001571, "gnomad_NFE_maf": 0.00717, "gnomad_OTH_maf": 0.003422, "gnomad_SAS_maf": 0.002874, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.179967, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 41754430, "genomic_position_hg38": 41248525, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.723304", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1549G>A", "protein_change": "p.Gly517Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3371/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3371/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3371/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3371/gene/?format=api" }, "data": { "type": "Gene", "id": "AXL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3371/?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 } }