Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SLC26A4/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1257", "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": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "7", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:01:06.442063", "ref_allele": null, "alt_allele": null, "cdna_change": "IVS13+9C>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "intronic" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI592" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1257/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1257/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1257/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1257/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC26A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1257/?format=api" } }, { "type": "SmallVariant", "id": "471", "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": 0.0003586, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.004786, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.763e-05, "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": 5.579128, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 107323898, "genomic_position_hg38": 107683453, "chromosome": "7", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:43.287758", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.919-2A>G", "protein_change": null, "transcript_id": "NM_000441.1", "dbsnp_id": "rs111033313", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1086" }, { "type": "Combination", "id": "OLI1488" }, { "type": "Combination", "id": "OLI241" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/471/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/471/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/471/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/471/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC26A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/471/?format=api" } }, { "type": "SmallVariant", "id": "473", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "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": 0.0031, "gnomad_maf": 0.0008599, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 2.893e-05, "gnomad_ASJ_maf": 0.001092, "gnomad_EAS_maf": 0.0002719, "gnomad_FIN_maf": 9.241e-05, "gnomad_NFE_maf": 0.001004, "gnomad_OTH_maf": 0.0008165, "gnomad_SAS_maf": 0.002483, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.00186 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.932002, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 107329499, "genomic_position_hg38": 107689054, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.300373", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1003T>C", "protein_change": "p.Phe335Leu", "transcript_id": "NM_000441.1", "dbsnp_id": "rs111033212", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI242" }, { "type": "Combination", "id": "OLI596" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/473/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/473/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/473/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/473/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC26A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/473/?format=api" } }, { "type": "SmallVariant", "id": "612", "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": 2.392e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.691e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.765e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.672542, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 107334884, "genomic_position_hg38": 107694439, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.074371", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1300G>A", "protein_change": "p.Ala434Thr", "transcript_id": "NM_000441.1", "dbsnp_id": "rs757552791", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI316" }, { "type": "Combination", "id": "OLI464" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/612/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/612/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/612/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/612/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC26A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/612/?format=api" } }, { "type": "SmallVariant", "id": "614", "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": 3.932856, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 107330648, "genomic_position_hg38": 107690203, "chromosome": "7", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:44.089062", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1229C>A", "protein_change": "p.Thr410Lys", "transcript_id": "NM_000441.1", "dbsnp_id": "rs111033220", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI317" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/614/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/614/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/614/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/614/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC26A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/614/?format=api" } }, { "type": "SmallVariant", "id": "997", "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": 7.964e-06, "gnomad_AFR_maf": 6.154e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.811e-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": "Damaging", "cadd_prediction": 3.622632, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 107341570, "genomic_position_hg38": 107701125, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.493901", "ref_allele": "T", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Tyr578His", "transcript_id": null, "dbsnp_id": "rs781728302", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI465" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/997/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/997/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/997/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/997/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC26A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/997/?format=api" } }, { "type": "SmallVariant", "id": "1017", "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": 0.0, "gnomad_NFE_maf": 1.758e-05, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.863016, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 107303808, "genomic_position_hg38": 107663363, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.614913", "ref_allele": "T", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Tyr78His", "transcript_id": null, "dbsnp_id": "rs760794201", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI473" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1017/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1017/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1017/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1017/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC26A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1017/?format=api" } }, { "type": "SmallVariant", "id": "1066", "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": 9.259e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0002004, "gnomad_NFE_maf": 0.0001776, "gnomad_OTH_maf": 0.000217, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.63803, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 107302171, "genomic_position_hg38": 107661726, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.918465", "ref_allele": "G", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Glu29Gln", "transcript_id": null, "dbsnp_id": "rs111033205", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI502" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1066/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1066/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1066/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1066/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC26A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1066/?format=api" } }, { "type": "SmallVariant", "id": "1182", "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": 2.392e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0003263, "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": "Possibly Damaging", "cadd_prediction": 1.749329, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 107334870, "genomic_position_hg38": 107694425, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.634781", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1286C>A", "protein_change": "p.Ala429Glu", "transcript_id": "NM_000441.1", "dbsnp_id": "rs753269996", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1173" }, { "type": "Combination", "id": "OLI566" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1182/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1182/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1182/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1182/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC26A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1182/?format=api" } }, { "type": "SmallVariant", "id": "1243", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0086, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0101, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.0307, "gnomad_maf": 0.008331, "gnomad_AFR_maf": 0.0016, "gnomad_AMR_maf": 0.002315, "gnomad_ASJ_maf": 0.02056, "gnomad_EAS_maf": 0.0001088, "gnomad_FIN_maf": 0.0006007, "gnomad_NFE_maf": 0.007561, "gnomad_OTH_maf": 0.007516, "gnomad_SAS_maf": 0.0281, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.00907 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.068256, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 107341628, "genomic_position_hg38": 107701183, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.971058", "ref_allele": "T", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Leu597Ser", "transcript_id": null, "dbsnp_id": "rs55638457", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI585" }, { "type": "Combination", "id": "OLI590" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1243/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1243/combinations/?format=api" } }, "gene_name": { "links": { "self": 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