← 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: 12-908757-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=908757&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 908757,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000315939.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7870A>T",
"hgvs_p": "p.Ser2624Cys",
"transcript": "NM_213655.5",
"protein_id": "NP_998820.3",
"transcript_support_level": null,
"aa_start": 2624,
"aa_end": null,
"aa_length": 2634,
"cds_start": 7870,
"cds_end": null,
"cds_length": 7905,
"cdna_start": 8857,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "ENST00000340908.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7870A>T",
"hgvs_p": "p.Ser2624Cys",
"transcript": "ENST00000340908.9",
"protein_id": "ENSP00000341292.5",
"transcript_support_level": 5,
"aa_start": 2624,
"aa_end": null,
"aa_length": 2634,
"cds_start": 7870,
"cds_end": null,
"cds_length": 7905,
"cdna_start": 8857,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "NM_213655.5",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7114A>T",
"hgvs_p": "p.Ser2372Cys",
"transcript": "NM_018979.4",
"protein_id": "NP_061852.3",
"transcript_support_level": null,
"aa_start": 2372,
"aa_end": null,
"aa_length": 2382,
"cds_start": 7114,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 8101,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "ENST00000315939.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7114A>T",
"hgvs_p": "p.Ser2372Cys",
"transcript": "ENST00000315939.11",
"protein_id": "ENSP00000313059.6",
"transcript_support_level": 1,
"aa_start": 2372,
"aa_end": null,
"aa_length": 2382,
"cds_start": 7114,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 8101,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "NM_018979.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.8467A>T",
"hgvs_p": "p.Ser2823Cys",
"transcript": "ENST00000530271.6",
"protein_id": "ENSP00000433548.3",
"transcript_support_level": 1,
"aa_start": 2823,
"aa_end": null,
"aa_length": 2833,
"cds_start": 8467,
"cds_end": null,
"cds_length": 8502,
"cdna_start": 9110,
"cdna_end": null,
"cdna_length": 11804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6370A>T",
"hgvs_p": "p.Ser2124Cys",
"transcript": "ENST00000535572.5",
"protein_id": "ENSP00000441972.1",
"transcript_support_level": 1,
"aa_start": 2124,
"aa_end": null,
"aa_length": 2134,
"cds_start": 6370,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 7343,
"cdna_end": null,
"cdna_length": 9886,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "n.598A>T",
"hgvs_p": null,
"transcript": "ENST00000540885.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7894A>T",
"hgvs_p": "p.Ser2632Cys",
"transcript": "NM_001184985.2",
"protein_id": "NP_001171914.1",
"transcript_support_level": null,
"aa_start": 2632,
"aa_end": null,
"aa_length": 2642,
"cds_start": 7894,
"cds_end": null,
"cds_length": 7929,
"cdna_start": 8881,
"cdna_end": null,
"cdna_length": 11576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7894A>T",
"hgvs_p": "p.Ser2632Cys",
"transcript": "ENST00000537687.5",
"protein_id": "ENSP00000444465.1",
"transcript_support_level": 5,
"aa_start": 2632,
"aa_end": null,
"aa_length": 2642,
"cds_start": 7894,
"cds_end": null,
"cds_length": 7929,
"cdna_start": 8537,
"cdna_end": null,
"cdna_length": 11232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6370A>T",
"hgvs_p": "p.Ser2124Cys",
"transcript": "NM_014823.3",
"protein_id": "NP_055638.2",
"transcript_support_level": null,
"aa_start": 2124,
"aa_end": null,
"aa_length": 2134,
"cds_start": 6370,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 7357,
"cdna_end": null,
"cdna_length": 10052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5893A>T",
"hgvs_p": "p.Ser1965Cys",
"transcript": "ENST00000675631.1",
"protein_id": "ENSP00000502415.1",
"transcript_support_level": null,
"aa_start": 1965,
"aa_end": null,
"aa_length": 1975,
"cds_start": 5893,
"cds_end": null,
"cds_length": 5928,
"cdna_start": 6162,
"cdna_end": null,
"cdna_length": 8857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4561A>T",
"hgvs_p": "p.Ser1521Cys",
"transcript": "ENST00000676347.1",
"protein_id": "ENSP00000501875.1",
"transcript_support_level": null,
"aa_start": 1521,
"aa_end": null,
"aa_length": 1531,
"cds_start": 4561,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 4561,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.8353A>T",
"hgvs_p": "p.Ser2785Cys",
"transcript": "XM_011520997.4",
"protein_id": "XP_011519299.1",
"transcript_support_level": null,
"aa_start": 2785,
"aa_end": null,
"aa_length": 2795,
"cds_start": 8353,
"cds_end": null,
"cds_length": 8388,
"cdna_start": 9340,
"cdna_end": null,
"cdna_length": 12035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.8350A>T",
"hgvs_p": "p.Ser2784Cys",
"transcript": "XM_011520998.3",
"protein_id": "XP_011519300.1",
"transcript_support_level": null,
"aa_start": 2784,
"aa_end": null,
"aa_length": 2794,
"cds_start": 8350,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 9337,
"cdna_end": null,
"cdna_length": 12032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.8350A>T",
"hgvs_p": "p.Ser2784Cys",
"transcript": "XM_011520999.3",
"protein_id": "XP_011519301.1",
"transcript_support_level": null,
"aa_start": 2784,
"aa_end": null,
"aa_length": 2794,
"cds_start": 8350,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 9337,
"cdna_end": null,
"cdna_length": 12032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.8158A>T",
"hgvs_p": "p.Ser2720Cys",
"transcript": "XM_011521000.3",
"protein_id": "XP_011519302.1",
"transcript_support_level": null,
"aa_start": 2720,
"aa_end": null,
"aa_length": 2730,
"cds_start": 8158,
"cds_end": null,
"cds_length": 8193,
"cdna_start": 9145,
"cdna_end": null,
"cdna_length": 11840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.8155A>T",
"hgvs_p": "p.Ser2719Cys",
"transcript": "XM_047429374.1",
"protein_id": "XP_047285330.1",
"transcript_support_level": null,
"aa_start": 2719,
"aa_end": null,
"aa_length": 2729,
"cds_start": 8155,
"cds_end": null,
"cds_length": 8190,
"cdna_start": 9142,
"cdna_end": null,
"cdna_length": 11837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.8074A>T",
"hgvs_p": "p.Ser2692Cys",
"transcript": "XM_011521001.3",
"protein_id": "XP_011519303.1",
"transcript_support_level": null,
"aa_start": 2692,
"aa_end": null,
"aa_length": 2702,
"cds_start": 8074,
"cds_end": null,
"cds_length": 8109,
"cdna_start": 9061,
"cdna_end": null,
"cdna_length": 11756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.8071A>T",
"hgvs_p": "p.Ser2691Cys",
"transcript": "XM_047429375.1",
"protein_id": "XP_047285331.1",
"transcript_support_level": null,
"aa_start": 2691,
"aa_end": null,
"aa_length": 2701,
"cds_start": 8071,
"cds_end": null,
"cds_length": 8106,
"cdna_start": 9058,
"cdna_end": null,
"cdna_length": 11753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7891A>T",
"hgvs_p": "p.Ser2631Cys",
"transcript": "XM_011521002.3",
"protein_id": "XP_011519304.1",
"transcript_support_level": null,
"aa_start": 2631,
"aa_end": null,
"aa_length": 2641,
"cds_start": 7891,
"cds_end": null,
"cds_length": 7926,
"cdna_start": 8878,
"cdna_end": null,
"cdna_length": 11573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7891A>T",
"hgvs_p": "p.Ser2631Cys",
"transcript": "XM_047429376.1",
"protein_id": "XP_047285332.1",
"transcript_support_level": null,
"aa_start": 2631,
"aa_end": null,
"aa_length": 2641,
"cds_start": 7891,
"cds_end": null,
"cds_length": 7926,
"cdna_start": 8878,
"cdna_end": null,
"cdna_length": 11573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7615A>T",
"hgvs_p": "p.Ser2539Cys",
"transcript": "XM_011521003.3",
"protein_id": "XP_011519305.1",
"transcript_support_level": null,
"aa_start": 2539,
"aa_end": null,
"aa_length": 2549,
"cds_start": 7615,
"cds_end": null,
"cds_length": 7650,
"cdna_start": 8602,
"cdna_end": null,
"cdna_length": 11297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7111A>T",
"hgvs_p": "p.Ser2371Cys",
"transcript": "XM_006719003.3",
"protein_id": "XP_006719066.1",
"transcript_support_level": null,
"aa_start": 2371,
"aa_end": null,
"aa_length": 2381,
"cds_start": 7111,
"cds_end": null,
"cds_length": 7146,
"cdna_start": 8098,
"cdna_end": null,
"cdna_length": 10793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7111A>T",
"hgvs_p": "p.Ser2371Cys",
"transcript": "XM_047429377.1",
"protein_id": "XP_047285333.1",
"transcript_support_level": null,
"aa_start": 2371,
"aa_end": null,
"aa_length": 2381,
"cds_start": 7111,
"cds_end": null,
"cds_length": 7146,
"cdna_start": 8098,
"cdna_end": null,
"cdna_length": 10793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7108A>T",
"hgvs_p": "p.Ser2370Cys",
"transcript": "XM_047429378.1",
"protein_id": "XP_047285334.1",
"transcript_support_level": null,
"aa_start": 2370,
"aa_end": null,
"aa_length": 2380,
"cds_start": 7108,
"cds_end": null,
"cds_length": 7143,
"cdna_start": 8095,
"cdna_end": null,
"cdna_length": 10790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7030A>T",
"hgvs_p": "p.Ser2344Cys",
"transcript": "XM_011521006.3",
"protein_id": "XP_011519308.1",
"transcript_support_level": null,
"aa_start": 2344,
"aa_end": null,
"aa_length": 2354,
"cds_start": 7030,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 8017,
"cdna_end": null,
"cdna_length": 10712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7027A>T",
"hgvs_p": "p.Ser2343Cys",
"transcript": "XM_011521007.3",
"protein_id": "XP_011519309.1",
"transcript_support_level": null,
"aa_start": 2343,
"aa_end": null,
"aa_length": 2353,
"cds_start": 7027,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 8014,
"cdna_end": null,
"cdna_length": 10709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7027A>T",
"hgvs_p": "p.Ser2343Cys",
"transcript": "XM_047429379.1",
"protein_id": "XP_047285335.1",
"transcript_support_level": null,
"aa_start": 2343,
"aa_end": null,
"aa_length": 2353,
"cds_start": 7027,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 8014,
"cdna_end": null,
"cdna_length": 10709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6835A>T",
"hgvs_p": "p.Ser2279Cys",
"transcript": "XM_047429380.1",
"protein_id": "XP_047285336.1",
"transcript_support_level": null,
"aa_start": 2279,
"aa_end": null,
"aa_length": 2289,
"cds_start": 6835,
"cds_end": null,
"cds_length": 6870,
"cdna_start": 7822,
"cdna_end": null,
"cdna_length": 10517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6835A>T",
"hgvs_p": "p.Ser2279Cys",
"transcript": "XM_047429381.1",
"protein_id": "XP_047285337.1",
"transcript_support_level": null,
"aa_start": 2279,
"aa_end": null,
"aa_length": 2289,
"cds_start": 6835,
"cds_end": null,
"cds_length": 6870,
"cdna_start": 7822,
"cdna_end": null,
"cdna_length": 10517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6832A>T",
"hgvs_p": "p.Ser2278Cys",
"transcript": "XM_047429382.1",
"protein_id": "XP_047285338.1",
"transcript_support_level": null,
"aa_start": 2278,
"aa_end": null,
"aa_length": 2288,
"cds_start": 6832,
"cds_end": null,
"cds_length": 6867,
"cdna_start": 7819,
"cdna_end": null,
"cdna_length": 10514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6832A>T",
"hgvs_p": "p.Ser2278Cys",
"transcript": "XM_047429383.1",
"protein_id": "XP_047285339.1",
"transcript_support_level": null,
"aa_start": 2278,
"aa_end": null,
"aa_length": 2288,
"cds_start": 6832,
"cds_end": null,
"cds_length": 6867,
"cdna_start": 7819,
"cdna_end": null,
"cdna_length": 10514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6829A>T",
"hgvs_p": "p.Ser2277Cys",
"transcript": "XM_047429384.1",
"protein_id": "XP_047285340.1",
"transcript_support_level": null,
"aa_start": 2277,
"aa_end": null,
"aa_length": 2287,
"cds_start": 6829,
"cds_end": null,
"cds_length": 6864,
"cdna_start": 7816,
"cdna_end": null,
"cdna_length": 10511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6751A>T",
"hgvs_p": "p.Ser2251Cys",
"transcript": "XM_047429385.1",
"protein_id": "XP_047285341.1",
"transcript_support_level": null,
"aa_start": 2251,
"aa_end": null,
"aa_length": 2261,
"cds_start": 6751,
"cds_end": null,
"cds_length": 6786,
"cdna_start": 7738,
"cdna_end": null,
"cdna_length": 10433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6748A>T",
"hgvs_p": "p.Ser2250Cys",
"transcript": "XM_047429386.1",
"protein_id": "XP_047285342.1",
"transcript_support_level": null,
"aa_start": 2250,
"aa_end": null,
"aa_length": 2260,
"cds_start": 6748,
"cds_end": null,
"cds_length": 6783,
"cdna_start": 7735,
"cdna_end": null,
"cdna_length": 10430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6745A>T",
"hgvs_p": "p.Ser2249Cys",
"transcript": "XM_047429387.1",
"protein_id": "XP_047285343.1",
"transcript_support_level": null,
"aa_start": 2249,
"aa_end": null,
"aa_length": 2259,
"cds_start": 6745,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 7732,
"cdna_end": null,
"cdna_length": 10427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6655A>T",
"hgvs_p": "p.Ser2219Cys",
"transcript": "XM_047429388.1",
"protein_id": "XP_047285344.1",
"transcript_support_level": null,
"aa_start": 2219,
"aa_end": null,
"aa_length": 2229,
"cds_start": 6655,
"cds_end": null,
"cds_length": 6690,
"cdna_start": 7642,
"cdna_end": null,
"cdna_length": 10337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6652A>T",
"hgvs_p": "p.Ser2218Cys",
"transcript": "XM_017019834.2",
"protein_id": "XP_016875323.1",
"transcript_support_level": null,
"aa_start": 2218,
"aa_end": null,
"aa_length": 2228,
"cds_start": 6652,
"cds_end": null,
"cds_length": 6687,
"cdna_start": 7639,
"cdna_end": null,
"cdna_length": 10334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6652A>T",
"hgvs_p": "p.Ser2218Cys",
"transcript": "XM_047429389.1",
"protein_id": "XP_047285345.1",
"transcript_support_level": null,
"aa_start": 2218,
"aa_end": null,
"aa_length": 2228,
"cds_start": 6652,
"cds_end": null,
"cds_length": 6687,
"cdna_start": 7639,
"cdna_end": null,
"cdna_length": 10334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6649A>T",
"hgvs_p": "p.Ser2217Cys",
"transcript": "XM_047429390.1",
"protein_id": "XP_047285346.1",
"transcript_support_level": null,
"aa_start": 2217,
"aa_end": null,
"aa_length": 2227,
"cds_start": 6649,
"cds_end": null,
"cds_length": 6684,
"cdna_start": 7636,
"cdna_end": null,
"cdna_length": 10331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6571A>T",
"hgvs_p": "p.Ser2191Cys",
"transcript": "XM_017019835.2",
"protein_id": "XP_016875324.1",
"transcript_support_level": null,
"aa_start": 2191,
"aa_end": null,
"aa_length": 2201,
"cds_start": 6571,
"cds_end": null,
"cds_length": 6606,
"cdna_start": 7558,
"cdna_end": null,
"cdna_length": 10253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6568A>T",
"hgvs_p": "p.Ser2190Cys",
"transcript": "XM_017019836.2",
"protein_id": "XP_016875325.1",
"transcript_support_level": null,
"aa_start": 2190,
"aa_end": null,
"aa_length": 2200,
"cds_start": 6568,
"cds_end": null,
"cds_length": 6603,
"cdna_start": 7555,
"cdna_end": null,
"cdna_length": 10250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6568A>T",
"hgvs_p": "p.Ser2190Cys",
"transcript": "XM_047429391.1",
"protein_id": "XP_047285347.1",
"transcript_support_level": null,
"aa_start": 2190,
"aa_end": null,
"aa_length": 2200,
"cds_start": 6568,
"cds_end": null,
"cds_length": 6603,
"cdna_start": 7555,
"cdna_end": null,
"cdna_length": 10250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6565A>T",
"hgvs_p": "p.Ser2189Cys",
"transcript": "XM_047429392.1",
"protein_id": "XP_047285348.1",
"transcript_support_level": null,
"aa_start": 2189,
"aa_end": null,
"aa_length": 2199,
"cds_start": 6565,
"cds_end": null,
"cds_length": 6600,
"cdna_start": 7552,
"cdna_end": null,
"cdna_length": 10247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6460A>T",
"hgvs_p": "p.Ser2154Cys",
"transcript": "XM_047429393.1",
"protein_id": "XP_047285349.1",
"transcript_support_level": null,
"aa_start": 2154,
"aa_end": null,
"aa_length": 2164,
"cds_start": 6460,
"cds_end": null,
"cds_length": 6495,
"cdna_start": 7447,
"cdna_end": null,
"cdna_length": 10142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6376A>T",
"hgvs_p": "p.Ser2126Cys",
"transcript": "XM_017019837.2",
"protein_id": "XP_016875326.1",
"transcript_support_level": null,
"aa_start": 2126,
"aa_end": null,
"aa_length": 2136,
"cds_start": 6376,
"cds_end": null,
"cds_length": 6411,
"cdna_start": 7363,
"cdna_end": null,
"cdna_length": 10058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6376A>T",
"hgvs_p": "p.Ser2126Cys",
"transcript": "XM_047429394.1",
"protein_id": "XP_047285350.1",
"transcript_support_level": null,
"aa_start": 2126,
"aa_end": null,
"aa_length": 2136,
"cds_start": 6376,
"cds_end": null,
"cds_length": 6411,
"cdna_start": 7363,
"cdna_end": null,
"cdna_length": 10058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6373A>T",
"hgvs_p": "p.Ser2125Cys",
"transcript": "XM_017019838.2",
"protein_id": "XP_016875327.1",
"transcript_support_level": null,
"aa_start": 2125,
"aa_end": null,
"aa_length": 2135,
"cds_start": 6373,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 7360,
"cdna_end": null,
"cdna_length": 10055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6373A>T",
"hgvs_p": "p.Ser2125Cys",
"transcript": "XM_047429395.1",
"protein_id": "XP_047285351.1",
"transcript_support_level": null,
"aa_start": 2125,
"aa_end": null,
"aa_length": 2135,
"cds_start": 6373,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 7360,
"cdna_end": null,
"cdna_length": 10055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6373A>T",
"hgvs_p": "p.Ser2125Cys",
"transcript": "XM_047429396.1",
"protein_id": "XP_047285352.1",
"transcript_support_level": null,
"aa_start": 2125,
"aa_end": null,
"aa_length": 2135,
"cds_start": 6373,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 7360,
"cdna_end": null,
"cdna_length": 10055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6373A>T",
"hgvs_p": "p.Ser2125Cys",
"transcript": "XM_047429397.1",
"protein_id": "XP_047285353.1",
"transcript_support_level": null,
"aa_start": 2125,
"aa_end": null,
"aa_length": 2135,
"cds_start": 6373,
"cds_end": null,
"cds_length": 6408,
"cdna_start": 7360,
"cdna_end": null,
"cdna_length": 10055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6292A>T",
"hgvs_p": "p.Ser2098Cys",
"transcript": "XM_011521008.3",
"protein_id": "XP_011519310.1",
"transcript_support_level": null,
"aa_start": 2098,
"aa_end": null,
"aa_length": 2108,
"cds_start": 6292,
"cds_end": null,
"cds_length": 6327,
"cdna_start": 7279,
"cdna_end": null,
"cdna_length": 9974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6289A>T",
"hgvs_p": "p.Ser2097Cys",
"transcript": "XM_011521009.3",
"protein_id": "XP_011519311.1",
"transcript_support_level": null,
"aa_start": 2097,
"aa_end": null,
"aa_length": 2107,
"cds_start": 6289,
"cds_end": null,
"cds_length": 6324,
"cdna_start": 7276,
"cdna_end": null,
"cdna_length": 9971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6289A>T",
"hgvs_p": "p.Ser2097Cys",
"transcript": "XM_047429398.1",
"protein_id": "XP_047285354.1",
"transcript_support_level": null,
"aa_start": 2097,
"aa_end": null,
"aa_length": 2107,
"cds_start": 6289,
"cds_end": null,
"cds_length": 6324,
"cdna_start": 7276,
"cdna_end": null,
"cdna_length": 9971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6286A>T",
"hgvs_p": "p.Ser2096Cys",
"transcript": "XM_047429399.1",
"protein_id": "XP_047285355.1",
"transcript_support_level": null,
"aa_start": 2096,
"aa_end": null,
"aa_length": 2106,
"cds_start": 6286,
"cds_end": null,
"cds_length": 6321,
"cdna_start": 7273,
"cdna_end": null,
"cdna_length": 9968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6181A>T",
"hgvs_p": "p.Ser2061Cys",
"transcript": "XM_047429400.1",
"protein_id": "XP_047285356.1",
"transcript_support_level": null,
"aa_start": 2061,
"aa_end": null,
"aa_length": 2071,
"cds_start": 6181,
"cds_end": null,
"cds_length": 6216,
"cdna_start": 7168,
"cdna_end": null,
"cdna_length": 9863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6178A>T",
"hgvs_p": "p.Ser2060Cys",
"transcript": "XM_047429401.1",
"protein_id": "XP_047285357.1",
"transcript_support_level": null,
"aa_start": 2060,
"aa_end": null,
"aa_length": 2070,
"cds_start": 6178,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 7165,
"cdna_end": null,
"cdna_length": 9860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6175A>T",
"hgvs_p": "p.Ser2059Cys",
"transcript": "XM_047429402.1",
"protein_id": "XP_047285358.1",
"transcript_support_level": null,
"aa_start": 2059,
"aa_end": null,
"aa_length": 2069,
"cds_start": 6175,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 7162,
"cdna_end": null,
"cdna_length": 9857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5155A>T",
"hgvs_p": "p.Ser1719Cys",
"transcript": "XM_047429403.1",
"protein_id": "XP_047285359.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 1729,
"cds_start": 5155,
"cds_end": null,
"cds_length": 5190,
"cdna_start": 5424,
"cdna_end": null,
"cdna_length": 8119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"dbsnp": "rs771383347",
"frequency_reference_population": 0.0000013068957,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 7.23673e-7,
"gnomad_genomes_af": 0.00000673383,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35215091705322266,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.57,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5106,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.404,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000315939.11",
"gene_symbol": "WNK1",
"hgnc_id": 14540,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.7114A>T",
"hgvs_p": "p.Ser2372Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}