Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI699/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1519", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0062, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0173, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0139, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.007851, "gnomad_AFR_maf": 0.003392, "gnomad_AMR_maf": 0.009805, "gnomad_ASJ_maf": 0.001923, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003911, "gnomad_NFE_maf": 0.01183, "gnomad_OTH_maf": 0.0138, "gnomad_SAS_maf": 0.00161, "ESP_AA_maf": 0.003635, "ESP_EA_maf": 0.01059 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.032615, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 109801543, "genomic_position_hg38": 109258921, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.653429", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.3800A>G", "protein_change": "p.His1267Arg", "transcript_id": "NM_001408.2", "dbsnp_id": "rs138543788", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI699" }, { "type": "Combination", "id": "OLI701" }, { "type": "Combination", "id": "OLI720" }, { "type": "Combination", "id": "OLI736" }, { "type": "Combination", "id": "OLI746" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1519/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1519/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1519/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1519/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1519/?format=api" } }, { "type": "SmallVariant", "id": "1520", "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": 0.001674, "gnomad_AFR_maf": 0.0004925, "gnomad_AMR_maf": 0.0004048, "gnomad_ASJ_maf": 0.003671, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001201, "gnomad_NFE_maf": 0.002735, "gnomad_OTH_maf": 0.002282, "gnomad_SAS_maf": 0.0003593, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.00314 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.11381, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 64892470, "genomic_position_hg38": 64425752, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.659555", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.878G>A", "protein_change": "p.Arg293His", "transcript_id": "NM_005956.3", "dbsnp_id": "rs34181110", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI699" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1520/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1520/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1520/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1520/gene/?format=api" }, "data": { "type": "Gene", "id": "MTHFD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1520/?format=api" } }, { "type": "SmallVariant", "id": "1521", "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": 0.001524, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0002607, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.003148, "gnomad_NFE_maf": 0.002536, "gnomad_OTH_maf": 0.001307, "gnomad_SAS_maf": 0.000229, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001744 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.081828, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 77676155, "genomic_position_hg38": 76755002, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.665625", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4519G>A", "protein_change": "p.Glu1507Lys", "transcript_id": "NM_020859.3", "dbsnp_id": "rs141646361", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI699" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1521/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1521/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1521/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1521/gene/?format=api" }, "data": { "type": "Gene", "id": "SHROOM3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1521/?format=api" } }, { "type": "SmallVariant", "id": "1522", "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": 7.966e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.763e-05, "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": 4.898969, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 104340634, "genomic_position_hg38": 103328406, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.671633", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1531C>T", "protein_change": "p.Arg511Cys", "transcript_id": "NM_001164615.1", "dbsnp_id": "rs151339003", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI699" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1522/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1522/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1522/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1522/gene/?format=api" }, "data": { "type": "Gene", "id": "FZD6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1522/?format=api" } }, { "type": "SmallVariant", "id": "1523", "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": 0.0003025, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.892e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0006515, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.233217, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 12958149, "genomic_position_hg38": 13100640, "chromosome": "8", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:49.677682", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1697C>A", "protein_change": "p.Ser566Tyr", "transcript_id": "NM_182643.3", "dbsnp_id": "rs149628772", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI699" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1523/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1523/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1523/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1523/gene/?format=api" }, "data": { "type": "Gene", "id": "DLC1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1523/?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 } }