Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI354/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "770", "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": "Benign", "cadd_prediction": 2.463238, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 57199211, "genomic_position_hg38": 57165183, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.110627", "ref_allele": "C", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Gly35Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI354" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/770/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/770/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/770/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/770/gene/?format=api" }, "data": { "type": "Gene", "id": "IL17RD" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/770/?format=api" } }, { "type": "SmallVariant", "id": "771", "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.454862, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 61654013, "genomic_position_hg38": 60741454, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.117130", "ref_allele": "A", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Ser8Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI354" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/771/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/771/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/771/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/771/gene/?format=api" }, "data": { "type": "Gene", "id": "CHD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/771/?format=api" } }, { "type": "SmallVariant", "id": "772", "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": "Benign", "cadd_prediction": 2.589489, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 61765669, "genomic_position_hg38": 60853110, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.123509", "ref_allele": "A", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Lys2129Glu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI354" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/772/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/772/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/772/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/772/gene/?format=api" }, "data": { "type": "Gene", "id": "CHD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/772/?format=api" } }, { "type": "SmallVariant", "id": "773", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002068, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001413, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.79e-05, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0004899, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.948265, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5780903, "genomic_position_hg38": 5741272, "chromosome": "7", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:45.129818", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.745G>T", "protein_change": "p.Val249Phe", "transcript_id": "NM_207111.4", "dbsnp_id": "rs200838092", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI354" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/773/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/773/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/773/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/773/gene/?format=api" }, "data": { "type": "Gene", "id": "RNF216" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/773/?format=api" } }, { "type": "SmallVariant", "id": "774", "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": 4.011e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.565e-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": "Possibly Damaging", "cadd_prediction": 1.49166, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 25280818, "genomic_position_hg38": 25423302, "chromosome": "8", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:45.136247", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.41G>A", "protein_change": "p.Gly14Asp", "transcript_id": "NM_000825.3", "dbsnp_id": "rs1445541945", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI354" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/774/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/774/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/774/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/774/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRH1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/774/?format=api" } }, { "type": "SmallVariant", "id": "775", "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.064071, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74704272, "genomic_position_hg38": 74411931, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.142668", "ref_allele": "A", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Phe459Ser", "transcript_id": null, "dbsnp_id": "rs1175151071", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI354" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/775/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/775/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/775/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/775/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/775/?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": 6 } }