Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1720/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3649", "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": 7.956106, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 128200721, "genomic_position_hg38": 128481878, "chromosome": "3", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.182259", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg348Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1720" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3649/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3649/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3649/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3649/gene/?format=api" }, "data": { "type": "Gene", "id": "GATA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3649/?format=api" } }, { "type": "SmallVariant", "id": "3650", "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": 4.148e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0005631, "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": 1.161752, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 195792457, "genomic_position_hg38": 196065586, "chromosome": "3", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.199494", "ref_allele": "T", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Asp70Ala", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1720" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3650/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3650/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3650/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3650/gene/?format=api" }, "data": { "type": "Gene", "id": "TFRC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3650/?format=api" } }, { "type": "SmallVariant", "id": "3651", "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": 0.0005344, "gnomad_AFR_maf": 0.0001231, "gnomad_AMR_maf": 0.0001455, "gnomad_ASJ_maf": 0.004174, "gnomad_EAS_maf": 0.00261, "gnomad_FIN_maf": 4.628e-05, "gnomad_NFE_maf": 0.0002909, "gnomad_OTH_maf": 0.0001638, "gnomad_SAS_maf": 6.554e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.654736, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103518782, "genomic_position_hg38": 102597625, "chromosome": "4", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.217428", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg533His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1720" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3651/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3651/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3651/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3651/gene/?format=api" }, "data": { "type": "Gene", "id": "NFKB1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3651/?format=api" } }, { "type": "SmallVariant", "id": "3652", "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": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.405462, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 49447365, "genomic_position_hg38": 49053582, "chromosome": "12", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.234866", "ref_allele": "T", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Thr245Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1720" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3652/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3652/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3652/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3652/gene/?format=api" }, "data": { "type": "Gene", "id": "KMT2D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3652/?format=api" } }, { "type": "SmallVariant", "id": "3653", "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": 3.977e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "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": "Damaging", "cadd_prediction": 3.620475, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 40359729, "genomic_position_hg38": 42207711, "chromosome": "17", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.251388", "ref_allele": "T", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Asn642His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1720" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3653/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3653/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3653/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3653/gene/?format=api" }, "data": { "type": "Gene", "id": "STAT5B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3653/?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 } }