Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/PROK2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "392", "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": 0.0001087, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.774093, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 71821916, "genomic_position_hg38": 71772765, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.823866", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.349C>T", "protein_change": "p.Arg117Trp", "transcript_id": "NM_001126128.1", "dbsnp_id": "rs750885767", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI201" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/392/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/392/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/392/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/392/gene/?format=api" }, "data": { "type": "Gene", "id": "PROK2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/392/?format=api" } }, { "type": "SmallVariant", "id": "556", "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": 5.681956, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 71830630, "genomic_position_hg38": 71781479, "chromosome": "3", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:43.781131", "ref_allele": "TGG", "alt_allele": "T", "cdna_change": "c.208_209del", "protein_change": "p.Pro70ThrfsTer4", "transcript_id": "NM_001126128.2", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI287" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/556/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/556/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/556/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/556/gene/?format=api" }, "data": { "type": "Gene", "id": "PROK2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/556/?format=api" } }, { "type": "SmallVariant", "id": "856", "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": 0.0, "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": 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": 0.215773, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 71834134, "genomic_position_hg38": 71784983, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.627142", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.70G>C", "protein_change": "p.Ala24Pro", "transcript_id": "NM_001126128.1", "dbsnp_id": "rs587777863", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI396" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/856/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/856/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/856/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/856/gene/?format=api" }, "data": { "type": "Gene", "id": "PROK2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/856/?format=api" } }, { "type": "SmallVariant", "id": "1827", "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": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0001274, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0005958, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.042e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.000588, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.974861, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 71821964, "genomic_position_hg38": 71772813, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.541112", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.301C>T", "protein_change": "p.Arg101Trp", "transcript_id": "NM_001126128.1", "dbsnp_id": "rs144953748", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI834" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1827/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1827/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1827/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1827/gene/?format=api" }, "data": { "type": "Gene", "id": "PROK2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1827/?format=api" } }, { "type": "SmallVariant", "id": "2726", "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": 4.257107, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 71830703, "genomic_position_hg38": 71781552, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.871149", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.137G>T", "protein_change": "p.Cys45Phe", "transcript_id": "NM_001126128.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1297" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2726/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2726/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2726/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2726/gene/?format=api" }, "data": { "type": "Gene", "id": "PROK2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2726/?format=api" } }, { "type": "SmallVariant", "id": "2974", "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": 3.893584, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 71830676, "genomic_position_hg38": 71781525, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.359635", "ref_allele": "AT", "alt_allele": "A", "cdna_change": "c.163del", "protein_change": "p.Ser54_Ile55insTer", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1414" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2974/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2974/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2974/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2974/gene/?format=api" }, "data": { "type": "Gene", "id": "PROK2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2974/?format=api" } }, { "type": "SmallVariant", "id": "3273", "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": 2.69575, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 71834104, "genomic_position_hg38": 71784953, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.125366", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.96+4A>G", "protein_change": null, "transcript_id": "NM_001126128", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1557" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3273/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3273/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3273/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3273/gene/?format=api" }, "data": { "type": "Gene", "id": "PROK2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3273/?format=api" } }, { "type": "SmallVariant", "id": "3471", "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": 3.893584, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 71830676, "genomic_position_hg38": 71781525, "chromosome": "3", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:26.578240", "ref_allele": "AT", "alt_allele": "A", "cdna_change": "c.163del", "protein_change": "p.Ile55Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1651" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3471/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3471/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3471/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3471/gene/?format=api" }, "data": { "type": "Gene", "id": "PROK2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3471/?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) 2026 · 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": 8 } }