Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/COL4A4/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "833", "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": "2", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:00:58.998678", "ref_allele": null, "alt_allele": null, "cdna_change": "c.[1-?_192+?del]", "protein_change": null, "transcript_id": "NM_000092.4", "dbsnp_id": "NA", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI382" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/833/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/833/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/833/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/833/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/833/?format=api" } }, { "type": "SmallVariant", "id": "72", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001484, "gnomad_AFR_maf": 6.462e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001669, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.42e-05, "gnomad_OTH_maf": 0.0001652, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.891005, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 227875130, "genomic_position_hg38": 227010414, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.949187", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4421C>T", "protein_change": "p.Thr1474Met", "transcript_id": "NM_000092.4", "dbsnp_id": "rs201615111", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI033" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/72/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/72/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/72/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/72/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/72/?format=api" } }, { "type": "SmallVariant", "id": "74", "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": 8.066921, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 227872088, "genomic_position_hg38": 227007372, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.961686", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5026C>T", "protein_change": "p.Gln1676Ter", "transcript_id": "NM_000092.4", "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI034" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/74/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/74/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/74/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/74/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/74/?format=api" } }, { "type": "SmallVariant", "id": "313", "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": 5.545947, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 227966627, "genomic_position_hg38": 227101911, "chromosome": "2", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:42.364867", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.931-2A>G", "protein_change": null, "transcript_id": "NM_000092.4", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI154" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/313/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/313/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/313/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/313/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/313/?format=api" } }, { "type": "SmallVariant", "id": "314", "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": 3.108064, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 227896873, "genomic_position_hg38": 227032157, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.371012", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3697G>A", "protein_change": "p.Gly1233Arg", "transcript_id": "NM_000092.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI155" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/314/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/314/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/314/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/314/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/314/?format=api" } }, { "type": "SmallVariant", "id": "317", "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": 0.0001242, "gnomad_AFR_maf": 6.457e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.002085, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.944e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002402 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.270647, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 227872069, "genomic_position_hg38": 227007353, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.389763", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.5045G>A", "protein_change": "p.Arg1682Gln", "transcript_id": "NM_000092.4", "dbsnp_id": "rs368404711", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI157" }, { "type": "Combination", "id": "OLI973" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/317/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/317/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/317/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/317/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/317/?format=api" } }, { "type": "SmallVariant", "id": "616", "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": 3.222e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0004453, "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": 0.605293, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 227953521, "genomic_position_hg38": 227088805, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.103326", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1471C>T", "protein_change": "p.Leu491Phe", "transcript_id": "NM_000092.4", "dbsnp_id": "rs777805216", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI318" }, { "type": "Combination", "id": "OLI319" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/616/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/616/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/616/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/616/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/616/?format=api" } }, { "type": "SmallVariant", "id": "821", "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": 3.144823, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 227953439, "genomic_position_hg38": 227088723, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.418722", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1553G>A", "protein_change": "p.Gly518Glu", "transcript_id": "NM_000092.4", "dbsnp_id": "rs564334744", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI376" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/821/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/821/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/821/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/821/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/821/?format=api" } }, { "type": "SmallVariant", "id": "823", "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": 4.009e-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": 8.836e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002441 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.762175, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 227906917, "genomic_position_hg38": 227042201, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.431644", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.3452G>C", "protein_change": "p.Gly1151Ala", "transcript_id": "NM_000092.4", "dbsnp_id": "rs371803356", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI377" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/823/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/823/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/823/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/823/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/823/?format=api" } }, { "type": "SmallVariant", "id": "825", "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": 4.018e-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": 8.863e-06, "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": 3.33024, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 227872844, "genomic_position_hg38": 227008128, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:45.444521", "ref_allele": "CA", "alt_allele": "C", "cdna_change": "c.4698del", "protein_change": "p.Cys1566TrpfsTer37", "transcript_id": "NM_000092.4", "dbsnp_id": "rs775931001", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI378" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/825/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/825/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/825/relationships/gene_name?format=api", "related": 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