Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/NOTCH1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1272", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "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": 0.0, "gnomad_maf": 0.0003209, "gnomad_AFR_maf": 0.0002726, "gnomad_AMR_maf": 0.0002432, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0006517, "gnomad_OTH_maf": 0.0004669, "gnomad_SAS_maf": 4.399e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.351828, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 139399213, "genomic_position_hg38": 136504761, "chromosome": "9", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:48.138266", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4930C>T", "protein_change": "p.Leu1644=", "transcript_id": "NM_017617.4", "dbsnp_id": "rs568700183", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1272/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1272/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1272/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1272/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1272/?format=api" } }, { "type": "SmallVariant", "id": "1287", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 8.904e-05, "gnomad_AFR_maf": 6.557e-05, "gnomad_AMR_maf": 0.0004356, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.481e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.27e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.400792, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 139401803, "genomic_position_hg38": 136507351, "chromosome": "9", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:48.232387", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3597C>T", "protein_change": "p.Leu1199=", "transcript_id": "NM_017617.4", "dbsnp_id": "rs150666307", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI600" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1287/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1287/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1287/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1287/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1287/?format=api" } }, { "type": "SmallVariant", "id": "1325", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001699, "gnomad_AFR_maf": 0.0005619, "gnomad_AMR_maf": 0.001919, "gnomad_ASJ_maf": 0.0005129, "gnomad_EAS_maf": 0.0001716, "gnomad_FIN_maf": 0.001614, "gnomad_NFE_maf": 0.002567, "gnomad_OTH_maf": 0.002793, "gnomad_SAS_maf": 9.965e-05, "ESP_AA_maf": 0.0004946, "ESP_EA_maf": 0.003236 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.700692, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 139405111, "genomic_position_hg38": 136510659, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.482012", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2734C>T", "protein_change": "p.Arg912Trp", "transcript_id": "NM_017617.4", "dbsnp_id": "rs201620358", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1325/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1325/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1325/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1325/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1325/?format=api" } }, { "type": "SmallVariant", "id": "1844", "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": 7.477e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0006775, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.857e-05, "gnomad_OTH_maf": 0.0003401, "gnomad_SAS_maf": 6.616e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.054583, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 139401390, "genomic_position_hg38": 136506938, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.651518", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3679C>T", "protein_change": "p.Pro1227Ser", "transcript_id": "NM_017617.4", "dbsnp_id": "rs777652834", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI843" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1844/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1844/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1844/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1844/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1844/?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 } }