← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-75593902-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75593902&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75593902,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001387111.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Lys461Glu",
"transcript": "NM_016218.6",
"protein_id": "NP_057302.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 870,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 14623,
"mane_select": "ENST00000241436.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016218.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Lys461Glu",
"transcript": "ENST00000241436.9",
"protein_id": "ENSP00000241436.4",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 870,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 14623,
"mane_select": "NM_016218.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000241436.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.935-2320A>G",
"hgvs_p": null,
"transcript": "ENST00000508526.5",
"protein_id": "ENSP00000426853.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": null,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508526.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1356+3462A>G",
"hgvs_p": null,
"transcript": "ENST00000504026.5",
"protein_id": "ENSP00000425075.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504026.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.1284A>G",
"hgvs_p": null,
"transcript": "ENST00000514141.5",
"protein_id": "ENSP00000423526.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000514141.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Lys475Glu",
"transcript": "NM_001387111.3",
"protein_id": "NP_001374040.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 884,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 14665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387111.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Lys475Glu",
"transcript": "NM_001395894.1",
"protein_id": "NP_001382823.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 884,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 14802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395894.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1420A>G",
"hgvs_p": "p.Lys474Glu",
"transcript": "NM_001395897.1",
"protein_id": "NP_001382826.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 883,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 14799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395897.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Lys461Glu",
"transcript": "NM_001387113.3",
"protein_id": "NP_001374042.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 870,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 14760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387113.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Lys461Glu",
"transcript": "ENST00000863893.1",
"protein_id": "ENSP00000533952.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 870,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863893.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Lys461Glu",
"transcript": "ENST00000863894.1",
"protein_id": "ENSP00000533953.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 870,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 3886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863894.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Lys461Glu",
"transcript": "ENST00000863896.1",
"protein_id": "ENSP00000533955.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 870,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863896.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Lys461Glu",
"transcript": "ENST00000935335.1",
"protein_id": "ENSP00000605394.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 870,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935335.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Lys461Glu",
"transcript": "ENST00000965055.1",
"protein_id": "ENSP00000635114.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 870,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965055.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Lys458Glu",
"transcript": "NM_001387110.3",
"protein_id": "NP_001374039.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 867,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 14614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387110.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Lys410Glu",
"transcript": "NM_001395899.1",
"protein_id": "NP_001382828.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 819,
"cds_start": 1228,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 14470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395899.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Lys410Glu",
"transcript": "ENST00000863895.1",
"protein_id": "ENSP00000533954.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 819,
"cds_start": 1228,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863895.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Lys410Glu",
"transcript": "ENST00000965054.1",
"protein_id": "ENSP00000635113.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 819,
"cds_start": 1228,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965054.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Lys395Glu",
"transcript": "NM_001345921.3",
"protein_id": "NP_001332850.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 804,
"cds_start": 1183,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 14475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345921.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Lys395Glu",
"transcript": "NM_001395900.1",
"protein_id": "NP_001382829.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 804,
"cds_start": 1183,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 14612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395900.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1141A>G",
"hgvs_p": "p.Lys381Glu",
"transcript": "NM_001395901.1",
"protein_id": "NP_001382830.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 790,
"cds_start": 1141,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 14383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395901.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1111A>G",
"hgvs_p": "p.Lys371Glu",
"transcript": "NM_001345922.3",
"protein_id": "NP_001332851.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 780,
"cds_start": 1111,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 14737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345922.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1111A>G",
"hgvs_p": "p.Lys371Glu",
"transcript": "NM_001395893.1",
"protein_id": "NP_001382822.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 780,
"cds_start": 1111,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 14874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395893.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1111A>G",
"hgvs_p": "p.Lys371Glu",
"transcript": "NM_001395902.1",
"protein_id": "NP_001382831.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 780,
"cds_start": 1111,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 14589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395902.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Lys475Glu",
"transcript": "XM_054328410.1",
"protein_id": "XP_054184385.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 884,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 14968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_054328410.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Lys475Glu",
"transcript": "XM_054328411.1",
"protein_id": "XP_054184386.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 884,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 14937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_054328411.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Lys475Glu",
"transcript": "XM_054328412.1",
"protein_id": "XP_054184387.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 884,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 14715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_054328412.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Lys475Glu",
"transcript": "XM_054328413.1",
"protein_id": "XP_054184388.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 884,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 14666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_054328413.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Lys475Glu",
"transcript": "XM_054328414.1",
"protein_id": "XP_054184389.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 884,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 14666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_054328414.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Lys475Glu",
"transcript": "XM_054328415.1",
"protein_id": "XP_054184390.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 884,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 14665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_054328415.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Lys461Glu",
"transcript": "XM_054328416.1",
"protein_id": "XP_054184391.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 870,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 14713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_054328416.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Lys461Glu",
"transcript": "XM_054328417.1",
"protein_id": "XP_054184392.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 870,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 14895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_054328417.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Lys385Glu",
"transcript": "XM_054328418.1",
"protein_id": "XP_054184393.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 794,
"cds_start": 1153,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 14473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_054328418.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Lys46Glu",
"transcript": "XM_054328420.1",
"protein_id": "XP_054184395.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 455,
"cds_start": 136,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 14948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_054328420.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1399-2320A>G",
"hgvs_p": null,
"transcript": "XM_054328419.1",
"protein_id": "XP_054184394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_054328419.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.*1222A>G",
"hgvs_p": null,
"transcript": "ENST00000505975.5",
"protein_id": "ENSP00000424859.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000505975.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.1504A>G",
"hgvs_p": null,
"transcript": "ENST00000506928.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000506928.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.*1222A>G",
"hgvs_p": null,
"transcript": "ENST00000505975.5",
"protein_id": "ENSP00000424859.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000505975.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.1159-64A>G",
"hgvs_p": null,
"transcript": "ENST00000503479.6",
"protein_id": "ENSP00000421997.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503479.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.1357-2320A>G",
"hgvs_p": null,
"transcript": "ENST00000509126.2",
"protein_id": "ENSP00000423532.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509126.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.1087-64A>G",
"hgvs_p": null,
"transcript": "ENST00000510815.6",
"protein_id": "ENSP00000422094.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510815.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.*1197+3462A>G",
"hgvs_p": null,
"transcript": "ENST00000511527.5",
"protein_id": "ENSP00000420997.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000511527.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.1394-2320A>G",
"hgvs_p": null,
"transcript": "NR_144315.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14451,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144315.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.1383-2320A>G",
"hgvs_p": null,
"transcript": "NR_170559.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14440,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170559.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.1531-64A>G",
"hgvs_p": null,
"transcript": "NR_170560.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14672,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170560.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.1436-64A>G",
"hgvs_p": null,
"transcript": "XR_008485566.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_008485566.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.1394-64A>G",
"hgvs_p": null,
"transcript": "XR_008485567.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_008485567.1"
}
],
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"dbsnp": "rs1554063600",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8976745009422302,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.696,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9844,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.26,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001387111.3",
"gene_symbol": "POLK",
"hgnc_id": 9183,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Lys475Glu"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}