Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/NR5A1/variants/?format=api
https://olida.ibsquare.be/api/variants/861/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/861/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/861/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/861/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/861/?format=api" } }, { "type": "SmallVariant", "id": "863", "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": 2.175203, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127253381, "genomic_position_hg38": 124491102, "chromosome": "9", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:45.672607", "ref_allele": "ACTT", "alt_allele": "A", "cdna_change": "c.1114_1116del", "protein_change": "p.Lys372del", "transcript_id": "NM_004959.5", "dbsnp_id": "NA", "variant_effect": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI401" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/863/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/863/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/863/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/863/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/863/?format=api" } }, { "type": "SmallVariant", "id": "1197", "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": "Benign", "cadd_prediction": 2.879763, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127265617, "genomic_position_hg38": 124503338, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.717310", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.58G>C", "protein_change": "p.Val20Leu", "transcript_id": "NM_004959.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI572" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1197/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1197/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1197/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1197/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1197/?format=api" } }, { "type": "SmallVariant", "id": "1199", "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": 4.402597, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127265604, "genomic_position_hg38": 124503325, "chromosome": "9", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.728989", "ref_allele": "TG", "alt_allele": "T", "cdna_change": "c.70delC", "protein_change": "p.His24ThrfsTer51", "transcript_id": "NM_004959", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI573" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1199/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1199/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1199/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1199/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1199/?format=api" } }, { "type": "SmallVariant", "id": "1206", "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": 4.006085, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127262971, "genomic_position_hg38": 124500692, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.770633", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.268G>C", "protein_change": "p.Gly90Arg", "transcript_id": "NM_004959.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI574" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1206/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1206/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1206/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1206/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1206/?format=api" } }, { "type": "SmallVariant", "id": "1214", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 3.070477, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127262624, "genomic_position_hg38": 124500345, "chromosome": "9", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.819059", "ref_allele": "T", "alt_allele": "TG", "cdna_change": "c.614_615insC", "protein_change": "p.Gln206ThrfsTer20", "transcript_id": "NM_004959", "dbsnp_id": "rs1234904066", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI575" }, { "type": "Combination", "id": "OLI668" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1214/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1214/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1214/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1214/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1214/?format=api" } }, { "type": "SmallVariant", "id": "1442", "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": 3.812786, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127265587, "genomic_position_hg38": 124503308, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.172393", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.88T>A", "protein_change": "p.Cys30Ser", "transcript_id": "NM_004959.4", "dbsnp_id": "rs1564153753", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI667" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1442/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1442/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1442/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1442/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1442/?format=api" } }, { "type": "SmallVariant", "id": "1445", "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": 2.382433, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127245237, "genomic_position_hg38": 124482958, "chromosome": "9", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:49.192660", "ref_allele": "TCTC", "alt_allele": "T", "cdna_change": "c.1183_1185delGAG", "protein_change": "p.Glu395del", "transcript_id": "NM_004959", "dbsnp_id": "NA", "variant_effect": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI669" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1445/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1445/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1445/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1445/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1445/?format=api" } }, { "type": "SmallVariant", "id": "1697", "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": 3.99641, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127255362, "genomic_position_hg38": 124493083, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.763811", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.937C>T", "protein_change": "p.Arg313Cys", "transcript_id": "NM_004959.4", "dbsnp_id": "rs1057517779", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI766" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1697/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1697/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1697/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1697/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1697/?format=api" } }, { "type": "SmallVariant", "id": "2169", "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": 3.867825, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127265589, "genomic_position_hg38": 124503310, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.640286", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.86C>A", "protein_change": "p.Thr29Lys", "transcript_id": "NM_004959.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI998" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2169/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2169/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2169/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2169/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2169/?format=api" } }, { "type": "SmallVariant", "id": "2269", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "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": 0.0031, "gnomad_maf": 0.000131, "gnomad_AFR_maf": 6.958e-05, "gnomad_AMR_maf": 2.968e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001799, "gnomad_OTH_maf": 0.0003447, "gnomad_SAS_maf": 0.0002707, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002327 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.692173, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127253435, "genomic_position_hg38": 124491156, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.243161", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1063G>A", "protein_change": "p.Val355Met", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1043" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2269/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2269/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2269/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2269/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2269/?format=api" } }, { "type": "SmallVariant", "id": "2278", "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": 4.904e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 3.24e-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": "Benign", "cadd_prediction": 0.337598, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 127262737, "genomic_position_hg38": 124500458, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.297201", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.502G>C", "protein_change": "p.Ala168Pro", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1046" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2278/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2278/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2278/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2278/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2278/?format=api" } }, { "type": "SmallVariant", "id": "3160", "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": 3.092832, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 127245200, "genomic_position_hg38": 124482921, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.443356", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1223A>C", "protein_change": "p.His408Pro", "transcript_id": "NM_004959", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1510" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3160/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3160/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3160/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3160/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3160/?format=api" } }, { "type": "SmallVariant", "id": "3257", "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": 4.304326, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127265396, "genomic_position_hg38": 124503117, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.026049", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.206G>T", "protein_change": "p.Arg69Leu", "transcript_id": "NM_004959", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1550" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3257/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3257/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3257/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3257/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3257/?format=api" } }, { "type": "SmallVariant", "id": "3272", "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": 4.052117, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127255395, "genomic_position_hg38": 124493116, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.119358", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.904T>C", "protein_change": "p.Trp302Arg", "transcript_id": "NM_004959", "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/3272/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3272/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3272/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3272/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3272/?format=api" } }, { "type": "SmallVariant", "id": "3275", "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": 4.238e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.966e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.563e-05, "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": 3.471808, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127253446, "genomic_position_hg38": 124491167, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.137362", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1052C>T", "protein_change": "p.Aal351Val", "transcript_id": "NM_004959", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1558" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3275/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3275/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3275/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3275/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3275/?format=api" } }, { "type": "SmallVariant", "id": "3411", "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": 4.414521, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127262934, "genomic_position_hg38": 124500655, "chromosome": "9", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:24.446289", "ref_allele": "TCCCGCTTGTACATCGGC", "alt_allele": "T", "cdna_change": "c.288_304del", "protein_change": "p.Met98GlyfsTer45", "transcript_id": "NM_004959.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1617" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3411/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3411/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3411/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3411/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3411/?format=api" } }, { "type": "SmallVariant", "id": "3413", "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": 6.222236, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127265664, "genomic_position_hg38": 124503385, "chromosome": "9", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:24.516509", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.11C>A", "protein_change": "p.Ser4Ter", "transcript_id": "NM_004959.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1618" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3413/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3413/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3413/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3413/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3413/?format=api" } }, { "type": "SmallVariant", "id": "3667", "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": 2.917428, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127262679, "genomic_position_hg38": 124500400, "chromosome": "9", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.874424", "ref_allele": "GC", "alt_allele": "G", "cdna_change": "c.559delG", "protein_change": "p.Ala187fs", "transcript_id": "NM_004959.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1727" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3667/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3667/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3667/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3667/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3667/?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": 19 } }{ "data": [ { "type": "SmallVariant", "id": "861", "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": 4.114e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.583e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001238 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.061927, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127262988, "genomic_position_hg38": 124500709, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.659647", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.251G>A", "protein_change": "p.Arg84His", "transcript_id": "NM_004959.4", "dbsnp_id": "rs375469069", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI400" } ], "links": { "self": "