Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/NOTCH2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "501", "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": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.336503, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 120611978, "genomic_position_hg38": 120069364, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.482970", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.43C>T", "protein_change": "p.Leu15Phe", "transcript_id": "NM_001200001.1", "dbsnp_id": "rs1570805519", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI258" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/501/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/501/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/501/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/501/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/501/?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": "762", "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": 3.978e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "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": 0.081926, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 120458562, "genomic_position_hg38": 119915939, "chromosome": "1", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:45.058917", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.6783G>A", "protein_change": "p.Glu2261=", "transcript_id": "NM_024408.3", "dbsnp_id": "rs759118563", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI352" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/762/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/762/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/762/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/762/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/762/?format=api" } }, { "type": "SmallVariant", "id": "1293", "attributes": { "frequencies": { "KGP_genomes_maf": 0.011, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.008, "KGP_genomes_SAS_maf": 0.046, "gnomad_maf": 0.01105, "gnomad_AFR_maf": 0.001423, "gnomad_AMR_maf": 0.004159, "gnomad_ASJ_maf": 0.005131, "gnomad_EAS_maf": 0.0001647, "gnomad_FIN_maf": 0.002344, "gnomad_NFE_maf": 0.007631, "gnomad_OTH_maf": 0.01289, "gnomad_SAS_maf": 0.05166, "ESP_AA_maf": 0.001135, "ESP_EA_maf": 0.006977 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.50846, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 120469147, "genomic_position_hg38": 119926524, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.269839", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.3980A>G", "protein_change": "p.Asp1327Gly", "transcript_id": "NM_024408.3", "dbsnp_id": "rs61752484", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI601" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1293/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1293/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1293/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1293/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1293/?format=api" } }, { "type": "SmallVariant", "id": "1313", "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": 0.0004295, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0008095, "gnomad_ASJ_maf": 0.0006944, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.24e-05, "gnomad_NFE_maf": 0.0005978, "gnomad_OTH_maf": 0.0004886, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.000814 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.676332, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 120458982, "genomic_position_hg38": 119916359, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.395483", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.6363G>C", "protein_change": "p.Lys2121Asn", "transcript_id": "NM_024408.3", "dbsnp_id": "rs144047610", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI603" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1313/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1313/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1313/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1313/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1313/?format=api" } }, { "type": "SmallVariant", "id": "2305", "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": "Possibly Damaging", "cadd_prediction": 3.762545, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 120497798, "genomic_position_hg38": 119955175, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.459673", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.2084C>A", "protein_change": "p.Ala695Glu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1054" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2305/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2305/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2305/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2305/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2305/?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": 6 } }