Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI350/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "745", "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": 3.283742, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 149638290, "genomic_position_hg38": 150470018, "chromosome": "X", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.949820", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.370C>T", "protein_change": "p.Gln124Ter", "transcript_id": "NM_001177465.3", "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/745/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/745/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/745/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/745/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/745/?format=api" } }, { "type": "SmallVariant", "id": "746", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.005, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005041, "gnomad_AFR_maf": 0.0001298, "gnomad_AMR_maf": 2.979e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.006275, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.581e-05, "gnomad_OTH_maf": 0.0001678, "gnomad_SAS_maf": 0.0001327, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.061483, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73405729, "genomic_position_hg38": 71645972, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.956207", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1282G>A", "protein_change": "p.Asp428Asn", "transcript_id": "NM_001171930.1", "dbsnp_id": "rs188376296", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/746/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/746/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/746/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/746/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/746/?format=api" } }, { "type": "SmallVariant", "id": "747", "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": 5.101e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 7.009e-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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.648128, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76871261, "genomic_position_hg38": 77160215, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.962544", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1133G>A", "protein_change": "p.Arg378His", "transcript_id": "NM_000260.3", "dbsnp_id": "rs397516282", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/747/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/747/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/747/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/747/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/747/?format=api" } }, { "type": "SmallVariant", "id": "748", "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": -0.039689, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 76903338, "genomic_position_hg38": 77192293, "chromosome": "11", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.969021", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.4152+15A>G", "protein_change": null, "transcript_id": "NM_000260.6", "dbsnp_id": "rs1033447071", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/748/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/748/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/748/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/748/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/748/?format=api" } }, { "type": "SmallVariant", "id": "749", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0058, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0288, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001508, "gnomad_AFR_maf": 0.0003076, "gnomad_AMR_maf": 0.0001157, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.01886, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.639e-05, "gnomad_OTH_maf": 0.001306, "gnomad_SAS_maf": 0.0003921, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.920805, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 39266397, "genomic_position_hg38": 38692260, "chromosome": "13", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.975628", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4916G>A", "protein_change": "p.Arg1639Lys", "transcript_id": "NM_207361.5", "dbsnp_id": "rs77886481", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/749/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/749/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/749/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/749/gene/?format=api" }, "data": { "type": "Gene", "id": "FREM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/749/?format=api" } }, { "type": "SmallVariant", "id": "750", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0062, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0159, "KGP_genomes_EAS_maf": 0.0159, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.009833, "gnomad_AFR_maf": 0.001359, "gnomad_AMR_maf": 0.03924, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.01941, "gnomad_FIN_maf": 0.02442, "gnomad_NFE_maf": 0.0008878, "gnomad_OTH_maf": 0.007634, "gnomad_SAS_maf": 0.001701, "ESP_AA_maf": 0.0005313, "ESP_EA_maf": 0.0003645 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.842936, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 79393310, "genomic_position_hg38": 78472156, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.982096", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.7372-24A>G", "protein_change": null, "transcript_id": "NM_025074.7", "dbsnp_id": "rs78365404", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/750/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/750/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/750/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/750/gene/?format=api" }, "data": { "type": "Gene", "id": "FRAS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/750/?format=api" } }, { "type": "SmallVariant", "id": "751", "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": 4.82e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0006676, "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.552541, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 79403007, "genomic_position_hg38": 78481853, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.988602", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.8493C>G", "protein_change": "p.Phe2831Leu", "transcript_id": "NM_025074.7", "dbsnp_id": "rs774409872", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/751/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/751/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/751/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/751/gene/?format=api" }, "data": { "type": "Gene", "id": "FRAS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/751/?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": 7 } }