Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/UNC13D/variants/?format=api
https://olida.ibsquare.be/api/variants/105/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/105/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/105/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/105/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/105/?format=api" } }, { "type": "SmallVariant", "id": "107", "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": 3.975365, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73831011, "genomic_position_hg38": 75834930, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.154381", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1982A>G", "protein_change": "p.Lys661Arg", "transcript_id": "NM_199242.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI054" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/107/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/107/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/107/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/107/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/107/?format=api" } }, { "type": "SmallVariant", "id": "109", "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": 1.197e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001632, "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.57896, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73832710, "genomic_position_hg38": 75836629, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.166964", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1241G>T", "protein_change": "p.Arg414Leu", "transcript_id": "NM_199242.2", "dbsnp_id": "rs768171054", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI055" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/109/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/109/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/109/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/109/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/109/?format=api" } }, { "type": "SmallVariant", "id": "110", "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": 5.252307, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73836658, "genomic_position_hg38": 75840577, "chromosome": "17", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:41.173078", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.684-1G>A", "protein_change": null, "transcript_id": "NM_199242.2", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI055" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/110/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/110/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/110/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/110/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/110/?format=api" } }, { "type": "SmallVariant", "id": "112", "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": 0.0001001, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 3.083e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001275, "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.688372, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73824083, "genomic_position_hg38": 75828002, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.185088", "ref_allele": "TTGGCCCG", "alt_allele": "T", "cdna_change": "c.3229_3235del", "protein_change": "p.Arg1077SerfsTer12", "transcript_id": "NM_199242.2", "dbsnp_id": "rs766652119", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI056" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/112/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/112/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/112/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/112/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/112/?format=api" } }, { "type": "SmallVariant", "id": "115", "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": 0.0001163, "gnomad_AFR_maf": 6.189e-05, "gnomad_AMR_maf": 0.0003476, "gnomad_ASJ_maf": 0.0001002, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.802e-05, "gnomad_OTH_maf": 0.0001642, "gnomad_SAS_maf": 9.828e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.649775, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73838623, "genomic_position_hg38": 75842542, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.203203", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.460C>T", "protein_change": "p.Arg154Trp", "transcript_id": "NM_199242.2", "dbsnp_id": "rs749259935", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI058" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/115/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/115/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/115/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/115/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/115/?format=api" } }, { "type": "SmallVariant", "id": "1107", "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": 8.94999, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73839332, "genomic_position_hg38": 75843251, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.174288", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.169G>T", "protein_change": "p.Glu57Ter", "transcript_id": "NM_199242.3", "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI522" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1107/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1107/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1107/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1107/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1107/?format=api" } }, { "type": "SmallVariant", "id": "1109", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0008221, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.005244, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.00085, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.274869, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73826653, "genomic_position_hg38": 75830572, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.186397", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.2709+6G>T", "protein_change": null, "transcript_id": "NM_199242.3", "dbsnp_id": "rs199529082", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI523" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1109/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1109/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1109/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1109/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1109/?format=api" } }, { "type": "SmallVariant", "id": "1111", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.004, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005861, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.007832, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.817e-06, "gnomad_OTH_maf": 0.0001632, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.954872, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73832719, "genomic_position_hg38": 75836638, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.198536", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1232G>A", "protein_change": "p.Arg411Gln", "transcript_id": "NM_199242.3", "dbsnp_id": "rs200109035", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI524" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1111/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1111/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1111/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1111/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1111/?format=api" } }, { "type": "SmallVariant", "id": "1112", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0038, "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": 0.0004004, "gnomad_AFR_maf": 0.005753, "gnomad_AMR_maf": 5.788e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.547e-05, "gnomad_OTH_maf": 0.000164, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.006809, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.002775, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73839274, "genomic_position_hg38": 75843193, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.204603", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.227C>T", "protein_change": "p.Thr76Met", "transcript_id": "NM_199242.3", "dbsnp_id": "rs78028658", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI525" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1112/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1112/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1112/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1112/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1112/?format=api" } }, { "type": "SmallVariant", "id": "1113", "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": 6.889e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001167, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.09e-05, "gnomad_OTH_maf": 0.0001664, "gnomad_SAS_maf": 9.853e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.190109, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73836181, "genomic_position_hg38": 75840100, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.210756", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.869C>T", "protein_change": "p.Ser290Leu", "transcript_id": "NM_199242.3", "dbsnp_id": "rs202020396", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI526" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1113/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1113/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1113/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1113/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1113/?format=api" } }, { "type": "SmallVariant", "id": "1114", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 9.134e-05, "gnomad_AFR_maf": 7.137e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0005239, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.927e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002332 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.184695, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73830461, "genomic_position_hg38": 75834380, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.216821", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2243C>T", "protein_change": "p.Ala748Val", "transcript_id": "NM_199242.3", "dbsnp_id": "rs375724532", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI527" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1114/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1114/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1114/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1114/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1114/?format=api" } }, { "type": "SmallVariant", "id": "1116", "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": "Possibly Damaging", "cadd_prediction": 2.963334, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73835939, "genomic_position_hg38": 75839858, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.229031", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1036G>A", "protein_change": "p.Asp346Asn", "transcript_id": "NM_199242.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI528" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1116/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1116/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1116/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1116/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1116/?format=api" } }, { "type": "SmallVariant", "id": "1117", "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": 0.00052, "gnomad_AFR_maf": 0.0002844, "gnomad_AMR_maf": 0.0001088, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0002404, "gnomad_NFE_maf": 0.001115, "gnomad_OTH_maf": 0.0002053, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0002296, "ESP_EA_maf": 0.0002339 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.681677, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73824159, "genomic_position_hg38": 75828078, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.235032", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.3160A>G", "protein_change": "p.Ile1054Val", "transcript_id": "NM_199242.3", "dbsnp_id": "rs150952348", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI529" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1117/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1117/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1117/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1117/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1117/?format=api" } }, { "type": "SmallVariant", "id": "1119", "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": 2.91764, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73824087, "genomic_position_hg38": 75828006, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.247141", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.3232G>C", "protein_change": "p.Ala1078Pro", "transcript_id": "NM_199242.3", "dbsnp_id": "rs761698730", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI530" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1119/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1119/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1119/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1119/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1119/?format=api" } }, { "type": "SmallVariant", "id": "1120", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.004406, "gnomad_AFR_maf": 0.001121, "gnomad_AMR_maf": 0.001956, "gnomad_ASJ_maf": 0.004256, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.004861, "gnomad_NFE_maf": 0.007631, "gnomad_OTH_maf": 0.005381, "gnomad_SAS_maf": 8.003e-05, "ESP_AA_maf": 0.001142, "ESP_EA_maf": 0.007105 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.677342, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73826167, "genomic_position_hg38": 75830086, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.253148", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2896C>T", "protein_change": "p.Arg966Trp", "transcript_id": "NM_199242.3", "dbsnp_id": "rs118049905", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI531" }, { "type": "Combination", "id": "OLI533" }, { "type": "Combination", "id": "OLI540" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1120/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1120/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1120/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1120/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1120/?format=api" } }, { "type": "SmallVariant", "id": "1122", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0192, "KGP_genomes_AFR_maf": 0.0711, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003947, "gnomad_AFR_maf": 0.0563, "gnomad_AMR_maf": 0.001214, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001936, "gnomad_OTH_maf": 0.0004892, "gnomad_SAS_maf": 0.0003266, "ESP_AA_maf": 0.05243, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.641445, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73831953, "genomic_position_hg38": 75835872, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.265364", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1579C>T", "protein_change": "p.Arg527Trp", "transcript_id": "NM_199242.3", "dbsnp_id": "rs75366116", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI532" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1122/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1122/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1122/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1122/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1122/?format=api" } }, { "type": "SmallVariant", "id": "1124", "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": 3.524399, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73839319, "genomic_position_hg38": 75843238, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.277811", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.182A>G", "protein_change": "p.Tyr61Cys", "transcript_id": "NM_199242.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI534" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1124/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1124/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1124/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1124/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1124/?format=api" } }, { "type": "SmallVariant", "id": "1131", "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": 7.199e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001507, "gnomad_OTH_maf": 0.0001638, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.054694, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73832419, "genomic_position_hg38": 75836338, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.322035", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1389+1G>A", "protein_change": null, "transcript_id": "NM_199242.3", "dbsnp_id": "rs777759523", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI541" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1131/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1131/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1131/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1131/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1131/?format=api" } }, { "type": "SmallVariant", "id": "1133", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.003, "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": 0.0005279, "gnomad_AFR_maf": 0.00542, "gnomad_AMR_maf": 0.0002278, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003132, "gnomad_OTH_maf": 0.000558, "gnomad_SAS_maf": 7.423e-05, "ESP_AA_maf": 0.005692, "ESP_EA_maf": 0.0001164 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.294417, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73826445, "genomic_position_hg38": 75830364, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.328186", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.2828A>G", "protein_change": "p.Asn943Ser", "transcript_id": "NM_199242.3", "dbsnp_id": "rs147748627", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI542" }, { "type": "Combination", "id": "OLI543" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1133/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1133/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1133/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1133/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1133/?format=api" } }, { "type": "SmallVariant", "id": "1135", "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": 1.2e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.894e-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": 6.535e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.688882, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73830760, "genomic_position_hg38": 75834679, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.340700", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.2030T>C", "protein_change": "p.Ile677Thr", "transcript_id": "NM_199242.3", "dbsnp_id": "rs747056010", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI544" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1135/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1135/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1135/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1135/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1135/?format=api" } }, { "type": "SmallVariant", "id": "2123", "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": 6.318959, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 73836022, "genomic_position_hg38": 75839941, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.358034", "ref_allele": "GC", "alt_allele": "TA", "cdna_change": "c.952_953delGCinsTA", "protein_change": "p.Ala318Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI980" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2123/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2123/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2123/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2123/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2123/?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": 22 } }{ "data": [ { "type": "SmallVariant", "id": "105", "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": 3.99e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0005438, "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.469857, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73832780, "genomic_position_hg38": 75836699, "chromosome": "17", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:41.142029", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1174-3C>G", "protein_change": null, "transcript_id": "NM_199242.2", "dbsnp_id": "rs766217093", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI053" } ], "links": { "self": "