← 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: 12-885406-T-TAGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=885406&ref=T&alt=TAGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 885406,
"ref": "T",
"alt": "TAGC",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_001184985.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5361_5363dupCAG",
"hgvs_p": "p.Ser1788dup",
"transcript": "NM_213655.5",
"protein_id": "NP_998820.3",
"transcript_support_level": null,
"aa_start": 1788,
"aa_end": null,
"aa_length": 2634,
"cds_start": 5364,
"cds_end": null,
"cds_length": 7905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000340908.9",
"biotype": "protein_coding",
"feature": "NM_213655.5"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5361_5363dupCAG",
"hgvs_p": "p.Ser1788dup",
"transcript": "ENST00000340908.9",
"protein_id": "ENSP00000341292.5",
"transcript_support_level": 5,
"aa_start": 1788,
"aa_end": null,
"aa_length": 2634,
"cds_start": 5364,
"cds_end": null,
"cds_length": 7905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_213655.5",
"biotype": "protein_coding",
"feature": "ENST00000340908.9"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4605_4607dupCAG",
"hgvs_p": "p.Ser1536dup",
"transcript": "NM_018979.4",
"protein_id": "NP_061852.3",
"transcript_support_level": null,
"aa_start": 1536,
"aa_end": null,
"aa_length": 2382,
"cds_start": 4608,
"cds_end": null,
"cds_length": 7149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315939.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018979.4"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4605_4607dupCAG",
"hgvs_p": "p.Ser1536dup",
"transcript": "ENST00000315939.11",
"protein_id": "ENSP00000313059.6",
"transcript_support_level": 1,
"aa_start": 1536,
"aa_end": null,
"aa_length": 2382,
"cds_start": 4608,
"cds_end": null,
"cds_length": 7149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018979.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315939.11"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5844_5846dupCAG",
"hgvs_p": "p.Ser1949dup",
"transcript": "ENST00000530271.6",
"protein_id": "ENSP00000433548.3",
"transcript_support_level": 1,
"aa_start": 1949,
"aa_end": null,
"aa_length": 2833,
"cds_start": 5847,
"cds_end": null,
"cds_length": 8502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530271.6"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3864_3866dupCAG",
"hgvs_p": "p.Ser1289dup",
"transcript": "ENST00000535572.5",
"protein_id": "ENSP00000441972.1",
"transcript_support_level": 1,
"aa_start": 1289,
"aa_end": null,
"aa_length": 2134,
"cds_start": 3867,
"cds_end": null,
"cds_length": 6405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535572.5"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5385_5387dupCAG",
"hgvs_p": "p.Ser1796dup",
"transcript": "NM_001184985.2",
"protein_id": "NP_001171914.1",
"transcript_support_level": null,
"aa_start": 1796,
"aa_end": null,
"aa_length": 2642,
"cds_start": 5388,
"cds_end": null,
"cds_length": 7929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184985.2"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5385_5387dupCAG",
"hgvs_p": "p.Ser1796dup",
"transcript": "ENST00000537687.5",
"protein_id": "ENSP00000444465.1",
"transcript_support_level": 5,
"aa_start": 1796,
"aa_end": null,
"aa_length": 2642,
"cds_start": 5388,
"cds_end": null,
"cds_length": 7929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537687.5"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4602_4604dupCAG",
"hgvs_p": "p.Ser1535dup",
"transcript": "ENST00000899151.1",
"protein_id": "ENSP00000569210.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 2381,
"cds_start": 4605,
"cds_end": null,
"cds_length": 7146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899151.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4521_4523dupCAG",
"hgvs_p": "p.Ser1508dup",
"transcript": "ENST00000928791.1",
"protein_id": "ENSP00000598850.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2354,
"cds_start": 4524,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928791.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4143_4145dupCAG",
"hgvs_p": "p.Ser1382dup",
"transcript": "ENST00000899157.1",
"protein_id": "ENSP00000569216.1",
"transcript_support_level": null,
"aa_start": 1382,
"aa_end": null,
"aa_length": 2228,
"cds_start": 4146,
"cds_end": null,
"cds_length": 6687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899157.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3867_3869dupCAG",
"hgvs_p": "p.Ser1290dup",
"transcript": "ENST00000899150.1",
"protein_id": "ENSP00000569209.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 2136,
"cds_start": 3870,
"cds_end": null,
"cds_length": 6411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899150.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3864_3866dupCAG",
"hgvs_p": "p.Ser1289dup",
"transcript": "ENST00000899152.1",
"protein_id": "ENSP00000569211.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 2135,
"cds_start": 3867,
"cds_end": null,
"cds_length": 6408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899152.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3867_3869dupCAG",
"hgvs_p": "p.Ser1290dup",
"transcript": "ENST00000899156.1",
"protein_id": "ENSP00000569215.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 2135,
"cds_start": 3870,
"cds_end": null,
"cds_length": 6408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899156.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3864_3866dupCAG",
"hgvs_p": "p.Ser1289dup",
"transcript": "NM_014823.3",
"protein_id": "NP_055638.2",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 2134,
"cds_start": 3867,
"cds_end": null,
"cds_length": 6405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014823.3"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3780_3782dupCAG",
"hgvs_p": "p.Ser1261dup",
"transcript": "ENST00000899153.1",
"protein_id": "ENSP00000569212.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 2107,
"cds_start": 3783,
"cds_end": null,
"cds_length": 6324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899153.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3783_3785dupCAG",
"hgvs_p": "p.Ser1262dup",
"transcript": "ENST00000899154.1",
"protein_id": "ENSP00000569213.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 2107,
"cds_start": 3786,
"cds_end": null,
"cds_length": 6324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899154.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3780_3782dupCAG",
"hgvs_p": "p.Ser1261dup",
"transcript": "ENST00000899155.1",
"protein_id": "ENSP00000569214.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 2106,
"cds_start": 3783,
"cds_end": null,
"cds_length": 6321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899155.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3384_3386dupCAG",
"hgvs_p": "p.Ser1129dup",
"transcript": "ENST00000675631.1",
"protein_id": "ENSP00000502415.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1975,
"cds_start": 3387,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675631.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2052_2054dupCAG",
"hgvs_p": "p.Ser685dup",
"transcript": "ENST00000676347.1",
"protein_id": "ENSP00000501875.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 1531,
"cds_start": 2055,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676347.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5844_5846dupCAG",
"hgvs_p": "p.Ser1949dup",
"transcript": "XM_011520997.4",
"protein_id": "XP_011519299.1",
"transcript_support_level": null,
"aa_start": 1949,
"aa_end": null,
"aa_length": 2795,
"cds_start": 5847,
"cds_end": null,
"cds_length": 8388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520997.4"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5841_5843dupCAG",
"hgvs_p": "p.Ser1948dup",
"transcript": "XM_011520998.3",
"protein_id": "XP_011519300.1",
"transcript_support_level": null,
"aa_start": 1948,
"aa_end": null,
"aa_length": 2794,
"cds_start": 5844,
"cds_end": null,
"cds_length": 8385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520998.3"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5844_5846dupCAG",
"hgvs_p": "p.Ser1949dup",
"transcript": "XM_011520999.3",
"protein_id": "XP_011519301.1",
"transcript_support_level": null,
"aa_start": 1949,
"aa_end": null,
"aa_length": 2794,
"cds_start": 5847,
"cds_end": null,
"cds_length": 8385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520999.3"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5844_5846dupCAG",
"hgvs_p": "p.Ser1949dup",
"transcript": "XM_011521000.3",
"protein_id": "XP_011519302.1",
"transcript_support_level": null,
"aa_start": 1949,
"aa_end": null,
"aa_length": 2730,
"cds_start": 5847,
"cds_end": null,
"cds_length": 8193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521000.3"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5844_5846dupCAG",
"hgvs_p": "p.Ser1949dup",
"transcript": "XM_047429374.1",
"protein_id": "XP_047285330.1",
"transcript_support_level": null,
"aa_start": 1949,
"aa_end": null,
"aa_length": 2729,
"cds_start": 5847,
"cds_end": null,
"cds_length": 8190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429374.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5565_5567dupCAG",
"hgvs_p": "p.Ser1856dup",
"transcript": "XM_011521001.3",
"protein_id": "XP_011519303.1",
"transcript_support_level": null,
"aa_start": 1856,
"aa_end": null,
"aa_length": 2702,
"cds_start": 5568,
"cds_end": null,
"cds_length": 8109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521001.3"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5565_5567dupCAG",
"hgvs_p": "p.Ser1856dup",
"transcript": "XM_047429375.1",
"protein_id": "XP_047285331.1",
"transcript_support_level": null,
"aa_start": 1856,
"aa_end": null,
"aa_length": 2701,
"cds_start": 5568,
"cds_end": null,
"cds_length": 8106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429375.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5382_5384dupCAG",
"hgvs_p": "p.Ser1795dup",
"transcript": "XM_011521002.3",
"protein_id": "XP_011519304.1",
"transcript_support_level": null,
"aa_start": 1795,
"aa_end": null,
"aa_length": 2641,
"cds_start": 5385,
"cds_end": null,
"cds_length": 7926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521002.3"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5385_5387dupCAG",
"hgvs_p": "p.Ser1796dup",
"transcript": "XM_047429376.1",
"protein_id": "XP_047285332.1",
"transcript_support_level": null,
"aa_start": 1796,
"aa_end": null,
"aa_length": 2641,
"cds_start": 5388,
"cds_end": null,
"cds_length": 7926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429376.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5106_5108dupCAG",
"hgvs_p": "p.Ser1703dup",
"transcript": "XM_011521003.3",
"protein_id": "XP_011519305.1",
"transcript_support_level": null,
"aa_start": 1703,
"aa_end": null,
"aa_length": 2549,
"cds_start": 5109,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521003.3"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4602_4604dupCAG",
"hgvs_p": "p.Ser1535dup",
"transcript": "XM_006719003.3",
"protein_id": "XP_006719066.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 2381,
"cds_start": 4605,
"cds_end": null,
"cds_length": 7146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719003.3"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4605_4607dupCAG",
"hgvs_p": "p.Ser1536dup",
"transcript": "XM_047429377.1",
"protein_id": "XP_047285333.1",
"transcript_support_level": null,
"aa_start": 1536,
"aa_end": null,
"aa_length": 2381,
"cds_start": 4608,
"cds_end": null,
"cds_length": 7146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429377.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4602_4604dupCAG",
"hgvs_p": "p.Ser1535dup",
"transcript": "XM_047429378.1",
"protein_id": "XP_047285334.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 2380,
"cds_start": 4605,
"cds_end": null,
"cds_length": 7143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429378.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4521_4523dupCAG",
"hgvs_p": "p.Ser1508dup",
"transcript": "XM_011521006.3",
"protein_id": "XP_011519308.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2354,
"cds_start": 4524,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521006.3"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4518_4520dupCAG",
"hgvs_p": "p.Ser1507dup",
"transcript": "XM_011521007.3",
"protein_id": "XP_011519309.1",
"transcript_support_level": null,
"aa_start": 1507,
"aa_end": null,
"aa_length": 2353,
"cds_start": 4521,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521007.3"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4521_4523dupCAG",
"hgvs_p": "p.Ser1508dup",
"transcript": "XM_047429379.1",
"protein_id": "XP_047285335.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2353,
"cds_start": 4524,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429379.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4326_4328dupCAG",
"hgvs_p": "p.Ser1443dup",
"transcript": "XM_047429380.1",
"protein_id": "XP_047285336.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 2289,
"cds_start": 4329,
"cds_end": null,
"cds_length": 6870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429380.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4521_4523dupCAG",
"hgvs_p": "p.Ser1508dup",
"transcript": "XM_047429381.1",
"protein_id": "XP_047285337.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2289,
"cds_start": 4524,
"cds_end": null,
"cds_length": 6870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429381.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4323_4325dupCAG",
"hgvs_p": "p.Ser1442dup",
"transcript": "XM_047429382.1",
"protein_id": "XP_047285338.1",
"transcript_support_level": null,
"aa_start": 1442,
"aa_end": null,
"aa_length": 2288,
"cds_start": 4326,
"cds_end": null,
"cds_length": 6867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429382.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4326_4328dupCAG",
"hgvs_p": "p.Ser1443dup",
"transcript": "XM_047429383.1",
"protein_id": "XP_047285339.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 2288,
"cds_start": 4329,
"cds_end": null,
"cds_length": 6867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429383.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4323_4325dupCAG",
"hgvs_p": "p.Ser1442dup",
"transcript": "XM_047429384.1",
"protein_id": "XP_047285340.1",
"transcript_support_level": null,
"aa_start": 1442,
"aa_end": null,
"aa_length": 2287,
"cds_start": 4326,
"cds_end": null,
"cds_length": 6864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429384.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4242_4244dupCAG",
"hgvs_p": "p.Ser1415dup",
"transcript": "XM_047429385.1",
"protein_id": "XP_047285341.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 2261,
"cds_start": 4245,
"cds_end": null,
"cds_length": 6786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429385.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4239_4241dupCAG",
"hgvs_p": "p.Ser1414dup",
"transcript": "XM_047429386.1",
"protein_id": "XP_047285342.1",
"transcript_support_level": null,
"aa_start": 1414,
"aa_end": null,
"aa_length": 2260,
"cds_start": 4242,
"cds_end": null,
"cds_length": 6783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429386.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4239_4241dupCAG",
"hgvs_p": "p.Ser1414dup",
"transcript": "XM_047429387.1",
"protein_id": "XP_047285343.1",
"transcript_support_level": null,
"aa_start": 1414,
"aa_end": null,
"aa_length": 2259,
"cds_start": 4242,
"cds_end": null,
"cds_length": 6780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429387.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4146_4148dupCAG",
"hgvs_p": "p.Ser1383dup",
"transcript": "XM_047429388.1",
"protein_id": "XP_047285344.1",
"transcript_support_level": null,
"aa_start": 1383,
"aa_end": null,
"aa_length": 2229,
"cds_start": 4149,
"cds_end": null,
"cds_length": 6690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429388.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4143_4145dupCAG",
"hgvs_p": "p.Ser1382dup",
"transcript": "XM_017019834.2",
"protein_id": "XP_016875323.1",
"transcript_support_level": null,
"aa_start": 1382,
"aa_end": null,
"aa_length": 2228,
"cds_start": 4146,
"cds_end": null,
"cds_length": 6687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019834.2"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4146_4148dupCAG",
"hgvs_p": "p.Ser1383dup",
"transcript": "XM_047429389.1",
"protein_id": "XP_047285345.1",
"transcript_support_level": null,
"aa_start": 1383,
"aa_end": null,
"aa_length": 2228,
"cds_start": 4149,
"cds_end": null,
"cds_length": 6687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429389.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4143_4145dupCAG",
"hgvs_p": "p.Ser1382dup",
"transcript": "XM_047429390.1",
"protein_id": "XP_047285346.1",
"transcript_support_level": null,
"aa_start": 1382,
"aa_end": null,
"aa_length": 2227,
"cds_start": 4146,
"cds_end": null,
"cds_length": 6684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429390.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4062_4064dupCAG",
"hgvs_p": "p.Ser1355dup",
"transcript": "XM_017019835.2",
"protein_id": "XP_016875324.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 2201,
"cds_start": 4065,
"cds_end": null,
"cds_length": 6606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019835.2"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4059_4061dupCAG",
"hgvs_p": "p.Ser1354dup",
"transcript": "XM_017019836.2",
"protein_id": "XP_016875325.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 2200,
"cds_start": 4062,
"cds_end": null,
"cds_length": 6603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019836.2"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4062_4064dupCAG",
"hgvs_p": "p.Ser1355dup",
"transcript": "XM_047429391.1",
"protein_id": "XP_047285347.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 2200,
"cds_start": 4065,
"cds_end": null,
"cds_length": 6603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429391.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4059_4061dupCAG",
"hgvs_p": "p.Ser1354dup",
"transcript": "XM_047429392.1",
"protein_id": "XP_047285348.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 2199,
"cds_start": 4062,
"cds_end": null,
"cds_length": 6600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429392.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4146_4148dupCAG",
"hgvs_p": "p.Ser1383dup",
"transcript": "XM_047429393.1",
"protein_id": "XP_047285349.1",
"transcript_support_level": null,
"aa_start": 1383,
"aa_end": null,
"aa_length": 2164,
"cds_start": 4149,
"cds_end": null,
"cds_length": 6495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429393.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3867_3869dupCAG",
"hgvs_p": "p.Ser1290dup",
"transcript": "XM_017019837.2",
"protein_id": "XP_016875326.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 2136,
"cds_start": 3870,
"cds_end": null,
"cds_length": 6411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019837.2"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4062_4064dupCAG",
"hgvs_p": "p.Ser1355dup",
"transcript": "XM_047429394.1",
"protein_id": "XP_047285350.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 2136,
"cds_start": 4065,
"cds_end": null,
"cds_length": 6411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429394.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3864_3866dupCAG",
"hgvs_p": "p.Ser1289dup",
"transcript": "XM_017019838.2",
"protein_id": "XP_016875327.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 2135,
"cds_start": 3867,
"cds_end": null,
"cds_length": 6408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019838.2"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3867_3869dupCAG",
"hgvs_p": "p.Ser1290dup",
"transcript": "XM_047429395.1",
"protein_id": "XP_047285351.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 2135,
"cds_start": 3870,
"cds_end": null,
"cds_length": 6408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429395.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4059_4061dupCAG",
"hgvs_p": "p.Ser1354dup",
"transcript": "XM_047429396.1",
"protein_id": "XP_047285352.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 2135,
"cds_start": 4062,
"cds_end": null,
"cds_length": 6408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429396.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4062_4064dupCAG",
"hgvs_p": "p.Ser1355dup",
"transcript": "XM_047429397.1",
"protein_id": "XP_047285353.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 2135,
"cds_start": 4065,
"cds_end": null,
"cds_length": 6408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429397.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3783_3785dupCAG",
"hgvs_p": "p.Ser1262dup",
"transcript": "XM_011521008.3",
"protein_id": "XP_011519310.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 2108,
"cds_start": 3786,
"cds_end": null,
"cds_length": 6327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521008.3"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3780_3782dupCAG",
"hgvs_p": "p.Ser1261dup",
"transcript": "XM_011521009.3",
"protein_id": "XP_011519311.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 2107,
"cds_start": 3783,
"cds_end": null,
"cds_length": 6324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521009.3"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3783_3785dupCAG",
"hgvs_p": "p.Ser1262dup",
"transcript": "XM_047429398.1",
"protein_id": "XP_047285354.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 2107,
"cds_start": 3786,
"cds_end": null,
"cds_length": 6324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429398.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3780_3782dupCAG",
"hgvs_p": "p.Ser1261dup",
"transcript": "XM_047429399.1",
"protein_id": "XP_047285355.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 2106,
"cds_start": 3783,
"cds_end": null,
"cds_length": 6321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429399.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3867_3869dupCAG",
"hgvs_p": "p.Ser1290dup",
"transcript": "XM_047429400.1",
"protein_id": "XP_047285356.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 2071,
"cds_start": 3870,
"cds_end": null,
"cds_length": 6216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429400.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3864_3866dupCAG",
"hgvs_p": "p.Ser1289dup",
"transcript": "XM_047429401.1",
"protein_id": "XP_047285357.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 2070,
"cds_start": 3867,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429401.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3864_3866dupCAG",
"hgvs_p": "p.Ser1289dup",
"transcript": "XM_047429402.1",
"protein_id": "XP_047285358.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 2069,
"cds_start": 3867,
"cds_end": null,
"cds_length": 6210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429402.1"
},
{
"aa_ref": "S",
"aa_alt": "SS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2646_2648dupCAG",
"hgvs_p": "p.Ser883dup",
"transcript": "XM_047429403.1",
"protein_id": "XP_047285359.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1729,
"cds_start": 2649,
"cds_end": null,
"cds_length": 5190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429403.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "n.3500_3502dupCAG",
"hgvs_p": null,
"transcript": "ENST00000675236.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000675236.1"
}
],
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"dbsnp": "rs72650732",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.402,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001184985.2",
"gene_symbol": "WNK1",
"hgnc_id": 14540,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5385_5387dupCAG",
"hgvs_p": "p.Ser1796dup"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}