Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/PRF1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "102", "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": 2.785e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0003806, "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": 0.070942, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 72360156, "genomic_position_hg38": 70600400, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.123445", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.503G>A", "protein_change": "p.Ser168Asn", "transcript_id": "NM_005041.4", "dbsnp_id": "rs779399414", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI052" }, { "type": "Combination", "id": "OLI057" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/102/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/102/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/102/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/102/gene/?format=api" }, "data": { "type": "Gene", "id": "PRF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/102/?format=api" } }, { "type": "SmallVariant", "id": "103", "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": 3.183e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0004962, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.76e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.263292, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 72358621, "genomic_position_hg38": 70598865, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.129642", "ref_allele": "GCTT", "alt_allele": "G", "cdna_change": "c.853_855delAAG", "protein_change": "p.Lys285del", "transcript_id": "NM_005041.4", "dbsnp_id": "rs745902829", "variant_effect": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI052" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/103/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/103/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/103/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/103/gene/?format=api" }, "data": { "type": "Gene", "id": "PRF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/103/?format=api" } }, { "type": "SmallVariant", "id": "111", "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": 0.0001402, "gnomad_AFR_maf": 6.158e-05, "gnomad_AMR_maf": 5.79e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0004351, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002047, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.271e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.366213, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 72358803, "genomic_position_hg38": 70599047, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.179076", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.674G>A", "protein_change": "p.Arg225Gln", "transcript_id": "NM_001083116.1", "dbsnp_id": "rs140281371", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI055" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/111/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/111/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/111/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/111/gene/?format=api" }, "data": { "type": "Gene", "id": "PRF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/111/?format=api" } }, { "type": "SmallVariant", "id": "116", "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.876019, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 72360354, "genomic_position_hg38": 70600598, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.209180", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.305G>T", "protein_change": "p.Cys102Phe", "transcript_id": "NM_001083116.1", "dbsnp_id": "rs760130891", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI058" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/116/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/116/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/116/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/116/gene/?format=api" }, "data": { "type": "Gene", "id": "PRF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/116/?format=api" } }, { "type": "SmallVariant", "id": "1106", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.0007301, "gnomad_AFR_maf": 0.0003704, "gnomad_AMR_maf": 5.784e-05, "gnomad_ASJ_maf": 0.0005957, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.001168, "gnomad_OTH_maf": 0.0006532, "gnomad_SAS_maf": 0.001078, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0009302 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.262159, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 72358167, "genomic_position_hg38": 70598411, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.168364", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1310C>T", "protein_change": "p.Ala437Val", "transcript_id": "NM_001083116.1", "dbsnp_id": "rs138126912", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI522" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1106/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1106/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1106/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1106/gene/?format=api" }, "data": { "type": "Gene", "id": "PRF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1106/?format=api" } }, { "type": "SmallVariant", "id": "1108", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0132, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0216, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0457, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.02932, "gnomad_AFR_maf": 0.00574, "gnomad_AMR_maf": 0.02303, "gnomad_ASJ_maf": 0.02668, "gnomad_EAS_maf": 0.0001634, "gnomad_FIN_maf": 0.02615, "gnomad_NFE_maf": 0.04662, "gnomad_OTH_maf": 0.03597, "gnomad_SAS_maf": 0.004317, "ESP_AA_maf": 0.009305, "ESP_EA_maf": 0.04628 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.027731, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 72360387, "genomic_position_hg38": 70600631, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.180336", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.272C>T", "protein_change": "p.Ala91Val", "transcript_id": "NM_001083116.1", "dbsnp_id": "rs35947132", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 10 }, "data": [ { "type": "Combination", "id": "OLI523" }, { "type": "Combination", "id": "OLI525" }, { "type": "Combination", "id": "OLI526" }, { "type": "Combination", "id": "OLI527" }, { "type": "Combination", "id": "OLI529" }, { "type": "Combination", "id": "OLI531" }, { "type": "Combination", "id": "OLI534" }, { "type": "Combination", "id": "OLI535" }, { "type": "Combination", "id": "OLI537" }, { "type": "Combination", "id": "OLI539" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1108/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1108/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1108/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1108/gene/?format=api" }, "data": { "type": "Gene", "id": "PRF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1108/?format=api" } }, { "type": "SmallVariant", "id": "1110", "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": 1.194e-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": 1.761e-05, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.095402, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 72358485, "genomic_position_hg38": 70598729, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.192486", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.992C>T", "protein_change": "p.Ser331Leu", "transcript_id": "NM_001083116.1", "dbsnp_id": "rs769364825", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI524" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1110/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1110/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1110/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1110/gene/?format=api" }, "data": { "type": "Gene", "id": "PRF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1110/?format=api" } }, { "type": "SmallVariant", "id": "1115", "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": 0.0007684, "gnomad_AFR_maf": 6.374e-05, "gnomad_AMR_maf": 0.004922, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005092, "gnomad_NFE_maf": 1.79e-05, "gnomad_OTH_maf": 0.0006579, "gnomad_SAS_maf": 9.803e-05, "ESP_AA_maf": 0.0002271, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.218205, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 72358248, "genomic_position_hg38": 70598492, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.222988", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1229G>A", "protein_change": "p.Arg410Gln", "transcript_id": "NM_001083116.1", "dbsnp_id": "rs150558419", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI528" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1115/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1115/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1115/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1115/gene/?format=api" }, "data": { "type": "Gene", "id": "PRF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1115/?format=api" } }, { "type": "SmallVariant", "id": "1118", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0028, "KGP_genomes_AFR_maf": 0.003, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0079, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0009127, "gnomad_AFR_maf": 0.005594, "gnomad_AMR_maf": 0.0002523, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.006898, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.438e-05, "gnomad_OTH_maf": 0.0001986, "gnomad_SAS_maf": 3.794e-05, "ESP_AA_maf": 0.002751, "ESP_EA_maf": 0.0001172 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.219949, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 72360649, "genomic_position_hg38": 70600893, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.241085", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.10C>T", "protein_change": "p.Arg4Cys", "transcript_id": "NM_001083116.1", "dbsnp_id": "rs12161733", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI530" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1118/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1118/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1118/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1118/gene/?format=api" }, "data": { "type": "Gene", "id": "PRF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1118/?format=api" } }, { "type": "SmallVariant", "id": "1121", "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": 0.0002371, "gnomad_AFR_maf": 0.003238, "gnomad_AMR_maf": 0.0002121, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.746e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.00307, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.348163, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 72360608, "genomic_position_hg38": 70600852, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.259178", "ref_allele": "CA", "alt_allele": "C", "cdna_change": "c.50delT", 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