Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI712/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1557", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0007003, "gnomad_AFR_maf": 0.0003081, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001386, "gnomad_NFE_maf": 0.001417, "gnomad_OTH_maf": 0.0009788, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0004545, "ESP_EA_maf": 0.001863 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.313561, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 71850766, "genomic_position_hg38": 72139722, "chromosome": "11", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:49.891111", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.755T>A", "protein_change": "p.Ile252Asn", "transcript_id": "ENST00000456237.1", "dbsnp_id": "rs184446689", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI712" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1557/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1557/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1557/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1557/gene/?format=api" }, "data": { "type": "Gene", "id": "FOLR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1557/?format=api" } }, { "type": "SmallVariant", "id": "1558", "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": 0.0004566, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002608, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0009173, "gnomad_OTH_maf": 0.0003285, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.001047 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.925547, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 126329821, "genomic_position_hg38": 125408666, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.897306", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.5792A>G", "protein_change": "p.Tyr1931Cys", "transcript_id": "NM_001291285.1", "dbsnp_id": "rs139716832", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI712" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1558/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1558/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1558/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1558/gene/?format=api" }, "data": { "type": "Gene", "id": "FAT4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1558/?format=api" } }, { "type": "SmallVariant", "id": "1559", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002005, "gnomad_AFR_maf": 0.0004317, "gnomad_AMR_maf": 0.00107, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0008315, "gnomad_NFE_maf": 0.003646, "gnomad_OTH_maf": 0.001144, "gnomad_SAS_maf": 0.0006859, "ESP_AA_maf": 0.0006809, "ESP_EA_maf": 0.004884 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.400856, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 126372555, "genomic_position_hg38": 125451400, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.903719", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.10384A>G", "protein_change": "p.Ile3462Val", "transcript_id": "NM_024582.4", "dbsnp_id": "rs147872710", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI712" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1559/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1559/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1559/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1559/gene/?format=api" }, "data": { "type": "Gene", "id": "FAT4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1559/?format=api" } }, { "type": "SmallVariant", "id": "1560", "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": 0.0004138, "gnomad_AFR_maf": 0.0001234, "gnomad_AMR_maf": 0.0001157, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0008092, "gnomad_OTH_maf": 0.0009791, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001628 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.698368, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 104336878, "genomic_position_hg38": 103324650, "chromosome": "8", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:49.910067", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.544G>A", "protein_change": "p.Ala182Thr", "transcript_id": "NM_003506.4", "dbsnp_id": "rs147788385", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI712" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1560/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1560/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1560/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1560/gene/?format=api" }, "data": { "type": "Gene", "id": "FZD6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1560/?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 } }