← 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: 12-883559-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=883559&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 883559,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000315939.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4410A>G",
"hgvs_p": "p.Ser1470Ser",
"transcript": "NM_213655.5",
"protein_id": "NP_998820.3",
"transcript_support_level": null,
"aa_start": 1470,
"aa_end": null,
"aa_length": 2634,
"cds_start": 4410,
"cds_end": null,
"cds_length": 7905,
"cdna_start": 5397,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "ENST00000340908.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4410A>G",
"hgvs_p": "p.Ser1470Ser",
"transcript": "ENST00000340908.9",
"protein_id": "ENSP00000341292.5",
"transcript_support_level": 5,
"aa_start": 1470,
"aa_end": null,
"aa_length": 2634,
"cds_start": 4410,
"cds_end": null,
"cds_length": 7905,
"cdna_start": 5397,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "NM_213655.5",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3654A>G",
"hgvs_p": "p.Ser1218Ser",
"transcript": "NM_018979.4",
"protein_id": "NP_061852.3",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 2382,
"cds_start": 3654,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 4641,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "ENST00000315939.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3654A>G",
"hgvs_p": "p.Ser1218Ser",
"transcript": "ENST00000315939.11",
"protein_id": "ENSP00000313059.6",
"transcript_support_level": 1,
"aa_start": 1218,
"aa_end": null,
"aa_length": 2382,
"cds_start": 3654,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 4641,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "NM_018979.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4893A>G",
"hgvs_p": "p.Ser1631Ser",
"transcript": "ENST00000530271.6",
"protein_id": "ENSP00000433548.3",
"transcript_support_level": 1,
"aa_start": 1631,
"aa_end": null,
"aa_length": 2833,
"cds_start": 4893,
"cds_end": null,
"cds_length": 8502,
"cdna_start": 5536,
"cdna_end": null,
"cdna_length": 11804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2913A>G",
"hgvs_p": "p.Ser971Ser",
"transcript": "ENST00000535572.5",
"protein_id": "ENSP00000441972.1",
"transcript_support_level": 1,
"aa_start": 971,
"aa_end": null,
"aa_length": 2134,
"cds_start": 2913,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 3886,
"cdna_end": null,
"cdna_length": 9886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4434A>G",
"hgvs_p": "p.Ser1478Ser",
"transcript": "NM_001184985.2",
"protein_id": "NP_001171914.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 2642,
"cds_start": 4434,
"cds_end": null,
"cds_length": 7929,
"cdna_start": 5421,
"cdna_end": null,
"cdna_length": 11576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4434A>G",
"hgvs_p": "p.Ser1478Ser",
"transcript": "ENST00000537687.5",
"protein_id": "ENSP00000444465.1",
"transcript_support_level": 5,
"aa_start": 1478,
"aa_end": null,
"aa_length": 2642,
"cds_start": 4434,
"cds_end": null,
"cds_length": 7929,
"cdna_start": 5077,
"cdna_end": null,
"cdna_length": 11232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2913A>G",
"hgvs_p": "p.Ser971Ser",
"transcript": "NM_014823.3",
"protein_id": "NP_055638.2",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 2134,
"cds_start": 2913,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 3900,
"cdna_end": null,
"cdna_length": 10052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2433A>G",
"hgvs_p": "p.Ser811Ser",
"transcript": "ENST00000675631.1",
"protein_id": "ENSP00000502415.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1975,
"cds_start": 2433,
"cds_end": null,
"cds_length": 5928,
"cdna_start": 2702,
"cdna_end": null,
"cdna_length": 8857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.1101A>G",
"hgvs_p": "p.Ser367Ser",
"transcript": "ENST00000676347.1",
"protein_id": "ENSP00000501875.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 1531,
"cds_start": 1101,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.354A>G",
"hgvs_p": "p.Ser118Ser",
"transcript": "ENST00000534872.1",
"protein_id": "ENSP00000446253.1",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 193,
"cds_start": 354,
"cds_end": null,
"cds_length": 584,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4893A>G",
"hgvs_p": "p.Ser1631Ser",
"transcript": "XM_011520997.4",
"protein_id": "XP_011519299.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 2795,
"cds_start": 4893,
"cds_end": null,
"cds_length": 8388,
"cdna_start": 5880,
"cdna_end": null,
"cdna_length": 12035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4890A>G",
"hgvs_p": "p.Ser1630Ser",
"transcript": "XM_011520998.3",
"protein_id": "XP_011519300.1",
"transcript_support_level": null,
"aa_start": 1630,
"aa_end": null,
"aa_length": 2794,
"cds_start": 4890,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 5877,
"cdna_end": null,
"cdna_length": 12032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4893A>G",
"hgvs_p": "p.Ser1631Ser",
"transcript": "XM_011520999.3",
"protein_id": "XP_011519301.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 2794,
"cds_start": 4893,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 5880,
"cdna_end": null,
"cdna_length": 12032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4893A>G",
"hgvs_p": "p.Ser1631Ser",
"transcript": "XM_011521000.3",
"protein_id": "XP_011519302.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 2730,
"cds_start": 4893,
"cds_end": null,
"cds_length": 8193,
"cdna_start": 5880,
"cdna_end": null,
"cdna_length": 11840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4893A>G",
"hgvs_p": "p.Ser1631Ser",
"transcript": "XM_047429374.1",
"protein_id": "XP_047285330.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 2729,
"cds_start": 4893,
"cds_end": null,
"cds_length": 8190,
"cdna_start": 5880,
"cdna_end": null,
"cdna_length": 11837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4614A>G",
"hgvs_p": "p.Ser1538Ser",
"transcript": "XM_011521001.3",
"protein_id": "XP_011519303.1",
"transcript_support_level": null,
"aa_start": 1538,
"aa_end": null,
"aa_length": 2702,
"cds_start": 4614,
"cds_end": null,
"cds_length": 8109,
"cdna_start": 5601,
"cdna_end": null,
"cdna_length": 11756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4614A>G",
"hgvs_p": "p.Ser1538Ser",
"transcript": "XM_047429375.1",
"protein_id": "XP_047285331.1",
"transcript_support_level": null,
"aa_start": 1538,
"aa_end": null,
"aa_length": 2701,
"cds_start": 4614,
"cds_end": null,
"cds_length": 8106,
"cdna_start": 5601,
"cdna_end": null,
"cdna_length": 11753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4431A>G",
"hgvs_p": "p.Ser1477Ser",
"transcript": "XM_011521002.3",
"protein_id": "XP_011519304.1",
"transcript_support_level": null,
"aa_start": 1477,
"aa_end": null,
"aa_length": 2641,
"cds_start": 4431,
"cds_end": null,
"cds_length": 7926,
"cdna_start": 5418,
"cdna_end": null,
"cdna_length": 11573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4434A>G",
"hgvs_p": "p.Ser1478Ser",
"transcript": "XM_047429376.1",
"protein_id": "XP_047285332.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 2641,
"cds_start": 4434,
"cds_end": null,
"cds_length": 7926,
"cdna_start": 5421,
"cdna_end": null,
"cdna_length": 11573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4155A>G",
"hgvs_p": "p.Ser1385Ser",
"transcript": "XM_011521003.3",
"protein_id": "XP_011519305.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 2549,
"cds_start": 4155,
"cds_end": null,
"cds_length": 7650,
"cdna_start": 5142,
"cdna_end": null,
"cdna_length": 11297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3651A>G",
"hgvs_p": "p.Ser1217Ser",
"transcript": "XM_006719003.3",
"protein_id": "XP_006719066.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 2381,
"cds_start": 3651,
"cds_end": null,
"cds_length": 7146,
"cdna_start": 4638,
"cdna_end": null,
"cdna_length": 10793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3654A>G",
"hgvs_p": "p.Ser1218Ser",
"transcript": "XM_047429377.1",
"protein_id": "XP_047285333.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 2381,
"cds_start": 3654,
"cds_end": null,
"cds_length": 7146,
"cdna_start": 4641,
"cdna_end": null,
"cdna_length": 10793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3651A>G",
"hgvs_p": "p.Ser1217Ser",
"transcript": "XM_047429378.1",
"protein_id": "XP_047285334.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 2380,
"cds_start": 3651,
"cds_end": null,
"cds_length": 7143,
"cdna_start": 4638,
"cdna_end": null,
"cdna_length": 10790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3570A>G",
"hgvs_p": "p.Ser1190Ser",
"transcript": "XM_011521006.3",
"protein_id": "XP_011519308.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 2354,
"cds_start": 3570,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 4557,
"cdna_end": null,
"cdna_length": 10712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3567A>G",
"hgvs_p": "p.Ser1189Ser",
"transcript": "XM_011521007.3",
"protein_id": "XP_011519309.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 2353,
"cds_start": 3567,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 4554,
"cdna_end": null,
"cdna_length": 10709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3570A>G",
"hgvs_p": "p.Ser1190Ser",
"transcript": "XM_047429379.1",
"protein_id": "XP_047285335.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 2353,
"cds_start": 3570,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 4557,
"cdna_end": null,
"cdna_length": 10709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3375A>G",
"hgvs_p": "p.Ser1125Ser",
"transcript": "XM_047429380.1",
"protein_id": "XP_047285336.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 2289,
"cds_start": 3375,
"cds_end": null,
"cds_length": 6870,
"cdna_start": 4362,
"cdna_end": null,
"cdna_length": 10517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3570A>G",
"hgvs_p": "p.Ser1190Ser",
"transcript": "XM_047429381.1",
"protein_id": "XP_047285337.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 2289,
"cds_start": 3570,
"cds_end": null,
"cds_length": 6870,
"cdna_start": 4557,
"cdna_end": null,
"cdna_length": 10517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3372A>G",
"hgvs_p": "p.Ser1124Ser",
"transcript": "XM_047429382.1",
"protein_id": "XP_047285338.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 2288,
"cds_start": 3372,
"cds_end": null,
"cds_length": 6867,
"cdna_start": 4359,
"cdna_end": null,
"cdna_length": 10514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3375A>G",
"hgvs_p": "p.Ser1125Ser",
"transcript": "XM_047429383.1",
"protein_id": "XP_047285339.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 2288,
"cds_start": 3375,
"cds_end": null,
"cds_length": 6867,
"cdna_start": 4362,
"cdna_end": null,
"cdna_length": 10514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3372A>G",
"hgvs_p": "p.Ser1124Ser",
"transcript": "XM_047429384.1",
"protein_id": "XP_047285340.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 2287,
"cds_start": 3372,
"cds_end": null,
"cds_length": 6864,
"cdna_start": 4359,
"cdna_end": null,
"cdna_length": 10511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3291A>G",
"hgvs_p": "p.Ser1097Ser",
"transcript": "XM_047429385.1",
"protein_id": "XP_047285341.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 2261,
"cds_start": 3291,
"cds_end": null,
"cds_length": 6786,
"cdna_start": 4278,
"cdna_end": null,
"cdna_length": 10433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3288A>G",
"hgvs_p": "p.Ser1096Ser",
"transcript": "XM_047429386.1",
"protein_id": "XP_047285342.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 2260,
"cds_start": 3288,
"cds_end": null,
"cds_length": 6783,
"cdna_start": 4275,
"cdna_end": null,
"cdna_length": 10430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3288A>G",
"hgvs_p": "p.Ser1096Ser",
"transcript": "XM_047429387.1",
"protein_id": "XP_047285343.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 2259,
"cds_start": 3288,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 4275,
"cdna_end": null,
"cdna_length": 10427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3195A>G",
"hgvs_p": "p.Ser1065Ser",
"transcript": "XM_047429388.1",
"protein_id": "XP_047285344.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 2229,
"cds_start": 3195,
"cds_end": null,
"cds_length": 6690,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 10337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3192A>G",
"hgvs_p": "p.Ser1064Ser",
"transcript": "XM_017019834.2",
"protein_id": "XP_016875323.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2228,
"cds_start": 3192,
"cds_end": null,
"cds_length": 6687,
"cdna_start": 4179,
"cdna_end": null,
"cdna_length": 10334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3195A>G",
"hgvs_p": "p.Ser1065Ser",
"transcript": "XM_047429389.1",
"protein_id": "XP_047285345.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 2228,
"cds_start": 3195,
"cds_end": null,
"cds_length": 6687,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 10334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3192A>G",
"hgvs_p": "p.Ser1064Ser",
"transcript": "XM_047429390.1",
"protein_id": "XP_047285346.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2227,
"cds_start": 3192,
"cds_end": null,
"cds_length": 6684,
"cdna_start": 4179,
"cdna_end": null,
"cdna_length": 10331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3111A>G",
"hgvs_p": "p.Ser1037Ser",
"transcript": "XM_017019835.2",
"protein_id": "XP_016875324.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 2201,
"cds_start": 3111,
"cds_end": null,
"cds_length": 6606,
"cdna_start": 4098,
"cdna_end": null,
"cdna_length": 10253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3108A>G",
"hgvs_p": "p.Ser1036Ser",
"transcript": "XM_017019836.2",
"protein_id": "XP_016875325.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 2200,
"cds_start": 3108,
"cds_end": null,
"cds_length": 6603,
"cdna_start": 4095,
"cdna_end": null,
"cdna_length": 10250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3111A>G",
"hgvs_p": "p.Ser1037Ser",
"transcript": "XM_047429391.1",
"protein_id": "XP_047285347.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 2200,
"cds_start": 3111,
"cds_end": null,
"cds_length": 6603,
"cdna_start": 4098,
"cdna_end": null,
"cdna_length": 10250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3108A>G",
"hgvs_p": "p.Ser1036Ser",
"transcript": "XM_047429392.1",
"protein_id": "XP_047285348.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 2199,
"cds_start": 3108,
"cds_end": null,
"cds_length": 6600,
"cdna_start": 4095,
"cdna_end": null,
"cdna_length": 10247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3195A>G",
"hgvs_p": "p.Ser1065Ser",
"transcript": "XM_047429393.1",
"protein_id": "XP_047285349.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 2164,
"cds_start": 3195,
"cds_end": null,
"cds_length": 6495,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 10142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2916A>G",
"hgvs_p": "p.Ser972Ser",
"transcript": "XM_017019837.2",
"protein_id": "XP_016875326.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 2136,
"cds_start": 2916,
"cds_end": null,
"cds_length": 6411,
"cdna_start": 3903,
"cdna_end": null,
"cdna_length": 10058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3111A>G",
"hgvs_p": "p.Ser1037Ser",
"transcript": "XM_047429394.1",
"protein_id": "XP_047285350.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 2136,
"cds_start": 3111,
"cds_end": null,
"cds_length": 6411,
"cdna_start": 4098,
"cdna_end": null,
"cdna_length": 10058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2913A>G",
"hgvs_p": "p.Ser971Ser",
"transcript": "XM_017019838.2",
"protein_id": "XP_016875327.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 2135,
"cds_start": 2913,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 3900,
"cdna_end": null,
"cdna_length": 10055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2916A>G",
"hgvs_p": "p.Ser972Ser",
"transcript": "XM_047429395.1",
"protein_id": "XP_047285351.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 2135,
"cds_start": 2916,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 3903,
"cdna_end": null,
"cdna_length": 10055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3108A>G",
"hgvs_p": "p.Ser1036Ser",
"transcript": "XM_047429396.1",
"protein_id": "XP_047285352.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 2135,
"cds_start": 3108,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 4095,
"cdna_end": null,
"cdna_length": 10055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3111A>G",
"hgvs_p": "p.Ser1037Ser",
"transcript": "XM_047429397.1",
"protein_id": "XP_047285353.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 2135,
"cds_start": 3111,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 4098,
"cdna_end": null,
"cdna_length": 10055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2832A>G",
"hgvs_p": "p.Ser944Ser",
"transcript": "XM_011521008.3",
"protein_id": "XP_011519310.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 2108,
"cds_start": 2832,
"cds_end": null,
"cds_length": 6327,
"cdna_start": 3819,
"cdna_end": null,
"cdna_length": 9974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2829A>G",
"hgvs_p": "p.Ser943Ser",
"transcript": "XM_011521009.3",
"protein_id": "XP_011519311.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 2107,
"cds_start": 2829,
"cds_end": null,
"cds_length": 6324,
"cdna_start": 3816,
"cdna_end": null,
"cdna_length": 9971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2832A>G",
"hgvs_p": "p.Ser944Ser",
"transcript": "XM_047429398.1",
"protein_id": "XP_047285354.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 2107,
"cds_start": 2832,
"cds_end": null,
"cds_length": 6324,
"cdna_start": 3819,
"cdna_end": null,
"cdna_length": 9971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2829A>G",
"hgvs_p": "p.Ser943Ser",
"transcript": "XM_047429399.1",
"protein_id": "XP_047285355.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 2106,
"cds_start": 2829,
"cds_end": null,
"cds_length": 6321,
"cdna_start": 3816,
"cdna_end": null,
"cdna_length": 9968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2916A>G",
"hgvs_p": "p.Ser972Ser",
"transcript": "XM_047429400.1",
"protein_id": "XP_047285356.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 2071,
"cds_start": 2916,
"cds_end": null,
"cds_length": 6216,
"cdna_start": 3903,
"cdna_end": null,
"cdna_length": 9863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2913A>G",
"hgvs_p": "p.Ser971Ser",
"transcript": "XM_047429401.1",
"protein_id": "XP_047285357.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 2070,
"cds_start": 2913,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 3900,
"cdna_end": null,
"cdna_length": 9860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2913A>G",
"hgvs_p": "p.Ser971Ser",
"transcript": "XM_047429402.1",
"protein_id": "XP_047285358.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 2069,
"cds_start": 2913,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 3900,
"cdna_end": null,
"cdna_length": 9857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.1695A>G",
"hgvs_p": "p.Ser565Ser",
"transcript": "XM_047429403.1",
"protein_id": "XP_047285359.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 1729,
"cds_start": 1695,
"cds_end": null,
"cds_length": 5190,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 8119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "n.4251A>G",
"hgvs_p": null,
"transcript": "ENST00000674810.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "n.2549A>G",
"hgvs_p": null,
"transcript": "ENST00000675236.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "n.*140A>G",
"hgvs_p": null,
"transcript": "ENST00000545055.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"dbsnp": "rs141971833",
"frequency_reference_population": 0.0025163982,
"hom_count_reference_population": 86,
"allele_count_reference_population": 4062,
"gnomad_exomes_af": 0.00236752,
"gnomad_genomes_af": 0.00394507,
"gnomad_exomes_ac": 3461,
"gnomad_genomes_ac": 601,
"gnomad_exomes_homalt": 82,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5799999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.882,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000315939.11",
"gene_symbol": "WNK1",
"hgnc_id": 14540,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3654A>G",
"hgvs_p": "p.Ser1218Ser"
}
],
"clinvar_disease": " hereditary sensory and autonomic, type 2A,Neuropathy,Pseudohypoaldosteronism type 2C,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"phenotype_combined": "Pseudohypoaldosteronism type 2C|Neuropathy, hereditary sensory and autonomic, type 2A;Pseudohypoaldosteronism type 2C|not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}