Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/NEK1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "976", "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": 4.980438, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 170458984, "genomic_position_hg38": 169537833, "chromosome": "4", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:46.371361", "ref_allele": "A", "alt_allele": "AT", "cdna_change": "c.1640dup", "protein_change": "p.Asn547LysfsTer2", "transcript_id": "NM_012224.3", "dbsnp_id": "rs483352907", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI458" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/976/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/976/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/976/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/976/gene/?format=api" }, "data": { "type": "Gene", "id": "NEK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/976/?format=api" } }, { "type": "SmallVariant", "id": "1369", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.002293, "gnomad_AFR_maf": 0.0005824, "gnomad_AMR_maf": 0.00102, "gnomad_ASJ_maf": 0.00219, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001208, "gnomad_NFE_maf": 0.003921, "gnomad_OTH_maf": 0.001497, "gnomad_SAS_maf": 0.0008849, "ESP_AA_maf": 0.0008206, "ESP_EA_maf": 0.003795 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.356575, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 170506525, "genomic_position_hg38": 169585374, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.693139", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.782G>A", "protein_change": "p.Arg261His", "transcript_id": "NM_012224.2", "dbsnp_id": "rs200161705", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI624" }, { "type": "Combination", "id": "OLI826" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1369/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1369/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1369/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1369/gene/?format=api" }, "data": { "type": "Gene", "id": "NEK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1369/?format=api" } }, { "type": "SmallVariant", "id": "1814", "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": 8.032e-06, "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": 1.772e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001223 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.420981, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 170506558, "genomic_position_hg38": 169585407, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.456747", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.749A>G", "protein_change": "p.Asn250Ser", "transcript_id": "NM_012224.2", "dbsnp_id": "rs368762503", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI827" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1814/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1814/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1814/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1814/gene/?format=api" }, "data": { "type": "Gene", "id": "NEK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1814/?format=api" } }, { "type": "SmallVariant", "id": "2052", "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": 4.744498, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 170520303, "genomic_position_hg38": 169599152, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.937559", "ref_allele": "TC", "alt_allele": "T", "cdna_change": "c.259dupG", "protein_change": "p.Asp87fs", "transcript_id": "NM_001199400", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI949" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2052/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2052/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2052/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2052/gene/?format=api" }, "data": { "type": "Gene", "id": "NEK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2052/?format=api" } }, { "type": "SmallVariant", "id": "2056", "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": 5.6505, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 170476870, "genomic_position_hg38": 169555719, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.962638", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1562+1G>A", "protein_change": null, "transcript_id": "NM_001199397", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI951" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2056/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2056/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2056/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2056/gene/?format=api" }, "data": { "type": "Gene", "id": "NEK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2056/?format=api" } }, { "type": "SmallVariant", "id": "2062", "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": "Disease causing" }, "status": "CU", "genomic_position_hg19": 170459038, "genomic_position_hg38": 169537887, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.999899", "ref_allele": "CT", "alt_allele": "C", "cdna_change": "c.1381delA", "protein_change": "p.Arg461fs", "transcript_id": "NM_001199399", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI954" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2062/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2062/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2062/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2062/gene/?format=api" }, "data": { "type": "Gene", "id": "NEK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2062/?format=api" } }, { "type": "SmallVariant", "id": "2085", "attributes": { "frequencies": { "KGP_genomes_maf": 0.105, "KGP_genomes_AFR_maf": 0.0802, "KGP_genomes_AMR_maf": 0.085, "KGP_genomes_EAS_maf": 0.1825, "KGP_genomes_EUR_maf": 0.0974, "KGP_genomes_SAS_maf": 0.0808, "gnomad_maf": 0.0984, "gnomad_AFR_maf": 0.08106, "gnomad_AMR_maf": 0.05746, "gnomad_ASJ_maf": 0.109, "gnomad_EAS_maf": 0.1687, "gnomad_FIN_maf": 0.08242, "gnomad_NFE_maf": 0.1093, "gnomad_OTH_maf": 0.1067, "gnomad_SAS_maf": 0.08216, "ESP_AA_maf": 0.07478, "ESP_EA_maf": 0.1139 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.539105, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 170398454, "genomic_position_hg38": 169477303, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.119300", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.2255A>G", "protein_change": "p.Glu752Gly", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI964" }, { "type": "Combination", "id": "OLI968" }, { "type": "Combination", "id": "OLI970" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2085/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2085/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2085/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2085/gene/?format=api" }, "data": { "type": "Gene", "id": "NEK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2085/?format=api" } }, { "type": "SmallVariant", "id": "2096", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0162, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0317, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0497, "KGP_genomes_SAS_maf": 0.0082, "gnomad_maf": 0.03578, "gnomad_AFR_maf": 0.01007, "gnomad_AMR_maf": 0.0242, "gnomad_ASJ_maf": 0.02239, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01979, "gnomad_NFE_maf": 0.05814, "gnomad_OTH_maf": 0.04093, "gnomad_SAS_maf": 0.01503, "ESP_AA_maf": 0.01023, "ESP_EA_maf": 0.05721 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.502236, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 170477125, "genomic_position_hg38": 169555974, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.188389", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1388C>T", "protein_change": "p.Ala463Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI969" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2096/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2096/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2096/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2096/gene/?format=api" }, "data": { "type": "Gene", "id": "NEK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2096/?format=api" } }, { "type": "SmallVariant", "id": "2132", "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": 3.562892, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 170523208, "genomic_position_hg38": 169602057, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.414735", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.165G>T", "protein_change": "p.Lys55Phe", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI983" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2132/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2132/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2132/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2132/gene/?format=api" }, "data": { "type": "Gene", "id": "NEK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2132/?format=api" } }, { "type": "SmallVariant", "id": "2138", "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": 0.0006066, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.006394, "gnomad_NFE_maf": 0.0001063, "gnomad_OTH_maf": 0.000331, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001221 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.897939, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 170520286, "genomic_position_hg38": 169599135, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.458492", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.277A>G", "protein_change": "p.Asn93Asp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI984" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2138/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2138/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2138/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2138/gene/?format=api" }, "data": { "type": "Gene", "id": "NEK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2138/?format=api" } }, { "type": "SmallVariant", "id": "2188", 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