Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI328/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "638", "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": 1.193e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 1.758e-05, "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": 3.0021, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33039600, "genomic_position_hg38": 31667287, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.253400", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Ala90Val", "transcript_id": null, "dbsnp_id": "rs1280042397", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 8 }, "data": [ { "type": "Combination", "id": "OLI328" }, { "type": "Combination", "id": "OLI329" }, { "type": "Combination", "id": "OLI330" }, { "type": "Combination", "id": "OLI331" }, { "type": "Combination", "id": "OLI332" }, { "type": "Combination", "id": "OLI333" }, { "type": "Combination", "id": "OLI334" }, { "type": "Combination", "id": "OLI335" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/638/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/638/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/638/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/638/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/638/?format=api" } }, { "type": "SmallVariant", "id": "639", "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": 6.82e-05, "gnomad_AFR_maf": 6.457e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0006961, "gnomad_NFE_maf": 8.849e-06, "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": "Possibly Damaging", "cadd_prediction": 2.402013, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73072424, "genomic_position_hg38": 73776599, "chromosome": "5", "annotation_flag": "manually_attributed", "lastmodified": "2023-12-19T09:05:57.196745", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.743C>G", "protein_change": "p.Thr248Arg", "transcript_id": "NM_001177693.1", "dbsnp_id": "rs375000790", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI328" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/639/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/639/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/639/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/639/gene/?format=api" }, "data": { "type": "Gene", "id": "ARHGEF28" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/639/?format=api" } }, { "type": "SmallVariant", "id": "640", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0003, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0014, "gnomad_maf": 7.312e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001467, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0005779, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.164469, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 153171196, "genomic_position_hg38": 153905742, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.266737", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.236G>C", "protein_change": "p.Gly79Ala", "transcript_id": "NM_000054.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI328" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/640/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/640/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/640/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/640/gene/?format=api" }, "data": { "type": "Gene", "id": "AVPR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/640/?format=api" } }, { "type": "SmallVariant", "id": "641", "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": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.619e-05, "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.916802, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 184298251, "genomic_position_hg38": 184580463, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.273398", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.2234G>T", "protein_change": "p.Gly745Val", "transcript_id": "NM_004443.3", "dbsnp_id": "rs774373853", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI328" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/641/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/641/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/641/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/641/gene/?format=api" }, "data": { "type": "Gene", "id": "EPHB3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/641/?format=api" } }, { "type": "SmallVariant", "id": "642", "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": 0.0002875, "gnomad_AFR_maf": 6.461e-05, "gnomad_AMR_maf": 0.0004058, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001669, "gnomad_FIN_maf": 0.0001394, "gnomad_NFE_maf": 0.0004328, "gnomad_OTH_maf": 0.0001657, "gnomad_SAS_maf": 3.274e-05, "ESP_AA_maf": 0.0002418, "ESP_EA_maf": 0.0004743 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.086604, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 118970225, "genomic_position_hg38": 119634530, "chromosome": "5", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.280086", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.782A>G", "protein_change": "p.His261Arg", "transcript_id": "NM_182761.3", "dbsnp_id": "rs199949750", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI328" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/642/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/642/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/642/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/642/gene/?format=api" }, "data": { "type": "Gene", "id": "FAM170A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/642/?format=api" } }, { "type": "SmallVariant", "id": "643", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003044, "gnomad_AFR_maf": 0.0006767, "gnomad_AMR_maf": 0.000318, "gnomad_ASJ_maf": 0.0002979, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.006515, "gnomad_NFE_maf": 0.005113, "gnomad_OTH_maf": 0.001794, "gnomad_SAS_maf": 0.0002287, "ESP_AA_maf": 0.001362, "ESP_EA_maf": 0.00407 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.264558, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 167358837, "genomic_position_hg38": 167389600, "chromosome": "1", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.286800", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.826A>G", "protein_change": "p.Thr276Ala", "transcript_id": "NM_002697.4", "dbsnp_id": "rs142378150", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI328" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/643/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/643/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/643/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/643/gene/?format=api" }, "data": { "type": "Gene", "id": "POU2F1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/643/?format=api" } }, { "type": "SmallVariant", "id": "644", "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": 4.41546, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 110143320, "genomic_position_hg38": 110272595, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.293525", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.37G>T", "protein_change": "p.Asp13Tyr", "transcript_id": "NM_002906.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI328" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/644/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/644/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/644/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/644/gene/?format=api" }, "data": { "type": "Gene", "id": "RDX" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/644/?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": 7 } }