Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI344/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "722", "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": 5.491e-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": 1.239e-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": 5.457566, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 149638986, "genomic_position_hg38": 150470714, "chromosome": "X", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.802464", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1066C>T", "protein_change": "p.Arg356Ter", "transcript_id": "NM_001177465.3", "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI344" }, { "type": "Combination", "id": "OLI345" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/722/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/722/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/722/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/722/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/722/?format=api" } }, { "type": "SmallVariant", "id": "723", "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": 0.218162, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44954242, "genomic_position_hg38": 46876876, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.808742", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.*158C>T", "protein_change": "None", "transcript_id": "NM_003396.4", "dbsnp_id": "rs1233082195", "variant_effect": "3'-UTR variant" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI344" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/723/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/723/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/723/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/723/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT9B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/723/?format=api" } }, { "type": "SmallVariant", "id": "724", "attributes": { "frequencies": { "KGP_genomes_maf": 0.006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0144, "KGP_genomes_EAS_maf": 0.0188, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.005325, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.01845, "gnomad_ASJ_maf": 0.002581, "gnomad_EAS_maf": 0.02622, "gnomad_FIN_maf": 0.003517, "gnomad_NFE_maf": 0.0006248, "gnomad_OTH_maf": 0.004732, "gnomad_SAS_maf": 0.00049, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.072921, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 120491213, "genomic_position_hg38": 119948590, "chromosome": "1", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.815115", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.2600-24C>A", "protein_change": null, "transcript_id": "NM_024408.3", "dbsnp_id": "rs149097658", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI344" }, { "type": "Combination", "id": "OLI347" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/724/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/724/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/724/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/724/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/724/?format=api" } }, { "type": "SmallVariant", "id": "725", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "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": 0.001, "gnomad_maf": 0.0003118, "gnomad_AFR_maf": 6.383e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.002996, "gnomad_EAS_maf": 0.0003292, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001977, "gnomad_OTH_maf": 0.0001664, "gnomad_SAS_maf": 0.0005243, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.11627, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 121726501, "genomic_position_hg38": 120968925, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.821510", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.845+10G>A", "protein_change": null, "transcript_id": "NM_005270.5", "dbsnp_id": "rs199673018", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI344" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/725/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/725/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/725/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/725/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/725/?format=api" } }, { "type": "SmallVariant", "id": "726", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0042, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0149, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003909, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 8.678e-05, "gnomad_ASJ_maf": 0.0006951, "gnomad_EAS_maf": 0.01544, "gnomad_FIN_maf": 0.02306, "gnomad_NFE_maf": 0.001321, "gnomad_OTH_maf": 0.003914, "gnomad_SAS_maf": 0.0004573, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0006977 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.964348, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42079622, "genomic_position_hg38": 42040023, "chromosome": "7", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.827963", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1028+15G>A", "protein_change": null, "transcript_id": "NM_000168.6", "dbsnp_id": "rs116842918", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI344" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/726/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/726/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/726/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/726/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/726/?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 } }