Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1329/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2790", "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": 0.0001481, "gnomad_AFR_maf": 6.164e-05, "gnomad_AMR_maf": 8.68e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002763, "gnomad_OTH_maf": 0.0001635, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.219387, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 89579685, "genomic_position_hg38": 89114002, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.259286", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1149+14T>C", "protein_change": null, "transcript_id": "NM_004120.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1329" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2790/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2790/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2790/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2790/gene/?format=api" }, "data": { "type": "Gene", "id": "GBP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2790/?format=api" } }, { "type": "SmallVariant", "id": "2791", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.001949, "gnomad_AFR_maf": 0.0003077, "gnomad_AMR_maf": 0.0005784, "gnomad_ASJ_maf": 0.0001985, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01183, "gnomad_NFE_maf": 0.001548, "gnomad_OTH_maf": 0.0006523, "gnomad_SAS_maf": 0.0008819, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.817867, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 89585878, "genomic_position_hg38": 89120195, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.265335", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.412G>A", "protein_change": null, "transcript_id": "NM_004120.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1329" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2791/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2791/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2791/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2791/gene/?format=api" }, "data": { "type": "Gene", "id": "GBP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2791/?format=api" } }, { "type": "SmallVariant", "id": "2792", "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": 0.206129, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 49753164, "genomic_position_hg38": 49715731, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.271367", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3150+17C>T", "protein_change": null, "transcript_id": "NM_022064.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1329" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2792/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2792/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2792/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2792/gene/?format=api" }, "data": { "type": "Gene", "id": "RNF123" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2792/?format=api" } }, { "type": "SmallVariant", "id": "2793", "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": 0.0001373, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.812e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.741e-05, "gnomad_NFE_maf": 0.0002783, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.042912, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 10468465, "genomic_position_hg38": 10357789, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.277580", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2441C>T", "protein_change": null, "transcript_id": "NM_003331.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1329" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2793/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2793/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2793/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2793/gene/?format=api" }, "data": { "type": "Gene", "id": "TYK2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2793/?format=api" } }, { "type": "SmallVariant", "id": "2794", "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": 0.0004398, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 7.635e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0006796, "gnomad_NFE_maf": 0.0008152, "gnomad_OTH_maf": 0.0004024, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.522992, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 47877143, "genomic_position_hg38": 49260606, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.283497", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2302", "protein_change": null, "transcript_id": "NM_021035.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1329" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2794/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2794/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2794/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2794/gene/?format=api" }, "data": { "type": "Gene", "id": "ZNFX1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2794/?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 } }