Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/KCNE1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1147", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": 0.7247, "KGP_genomes_AMR_maf": 0.6138, "KGP_genomes_EAS_maf": 0.7083, "KGP_genomes_EUR_maf": 0.6243, "KGP_genomes_SAS_maf": 0.6636, "gnomad_maf": 0.6428, "gnomad_AFR_maf": 0.7123, "gnomad_AMR_maf": 0.5929, "gnomad_ASJ_maf": 0.6993, "gnomad_EAS_maf": 0.7109, "gnomad_FIN_maf": 0.5729, "gnomad_NFE_maf": 0.6427, "gnomad_OTH_maf": 0.6387, "gnomad_SAS_maf": 0.6536, "ESP_AA_maf": 0.7108, "ESP_EA_maf": 0.6369 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.02371, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 35821821, "genomic_position_hg38": 34449523, "chromosome": "21", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:47.416059", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.112A>G", "protein_change": "p.Ser38Gly", "transcript_id": "NM_001127670.3", "dbsnp_id": "rs1805127", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI549" }, { "type": "Combination", "id": "OLI551" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1147/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1147/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1147/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1147/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNE1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1147/?format=api" } }, { "type": "SmallVariant", "id": "2586", "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": 0.995655, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 35821554, "genomic_position_hg38": 34449256, "chromosome": "21", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.007906", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.379C>A", "protein_change": "p.Pro127Thr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1216" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2586/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2586/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2586/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2586/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNE1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2586/?format=api" } }, { "type": "SmallVariant", "id": "2588", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0038, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.005, "KGP_genomes_EUR_maf": 0.0089, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.009438, "gnomad_AFR_maf": 0.0024, "gnomad_AMR_maf": 0.002718, "gnomad_ASJ_maf": 0.0254, "gnomad_EAS_maf": 0.005492, "gnomad_FIN_maf": 0.01691, "gnomad_NFE_maf": 0.01249, "gnomad_OTH_maf": 0.008795, "gnomad_SAS_maf": 0.001404, "ESP_AA_maf": 0.002043, "ESP_EA_maf": 0.01221 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.672021, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 35821680, "genomic_position_hg38": 34449382, "chromosome": "21", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.019704", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.253G>A", "protein_change": "p.Asp85Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 10 }, "data": [ { "type": "Combination", "id": "OLI1217" }, { "type": "Combination", "id": "OLI1218" }, { "type": "Combination", "id": "OLI1219" }, { "type": "Combination", "id": "OLI1221" }, { "type": "Combination", "id": "OLI1222" }, { "type": "Combination", "id": "OLI1223" }, { "type": "Combination", "id": "OLI1224" }, { "type": "Combination", "id": "OLI1225" }, { "type": "Combination", "id": "OLI1226" }, { "type": "Combination", "id": "OLI1228" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2588/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2588/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2588/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2588/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNE1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2588/?format=api" } }, { "type": "SmallVariant", "id": "2592", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "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": 1.591e-05, "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": 1.759e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.516609, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 35821712, "genomic_position_hg38": 34449414, "chromosome": "21", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.043770", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.221C>T", "protein_change": "p.Ser74Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1220" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2592/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2592/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2592/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2592/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNE1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2592/?format=api" } }, { "type": "SmallVariant", "id": "2600", "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": 5.173e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 9.925e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.039e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001307, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.968699, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 35821838, "genomic_position_hg38": 34449540, "chromosome": "21", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.091517", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.95G>A", "protein_change": "p.Arg32His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1227" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2600/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2600/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2600/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2600/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNE1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2600/?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 } }