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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: 12-894591-GCAACTAGTT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=894591&ref=GCAACTAGTT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 894591,
"ref": "GCAACTAGTT",
"alt": "G",
"effect": "conservative_inframe_deletion",
"transcript": "NM_001184985.2",
"consequences": [
{
"aa_ref": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6298_6306delACTAGTTCA",
"hgvs_p": "p.Thr2100_Ser2102del",
"transcript": "NM_213655.5",
"protein_id": "NP_998820.3",
"transcript_support_level": null,
"aa_start": 2100,
"aa_end": null,
"aa_length": 2634,
"cds_start": 6298,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6298_6306delACTAGTTCA",
"hgvs_p": "p.Thr2100_Ser2102del",
"transcript": "ENST00000340908.9",
"protein_id": "ENSP00000341292.5",
"transcript_support_level": 5,
"aa_start": 2100,
"aa_end": null,
"aa_length": 2634,
"cds_start": 6298,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5542_5550delACTAGTTCA",
"hgvs_p": "p.Thr1848_Ser1850del",
"transcript": "NM_018979.4",
"protein_id": "NP_061852.3",
"transcript_support_level": null,
"aa_start": 1848,
"aa_end": null,
"aa_length": 2382,
"cds_start": 5542,
"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": "TSS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5542_5550delACTAGTTCA",
"hgvs_p": "p.Thr1848_Ser1850del",
"transcript": "ENST00000315939.11",
"protein_id": "ENSP00000313059.6",
"transcript_support_level": 1,
"aa_start": 1848,
"aa_end": null,
"aa_length": 2382,
"cds_start": 5542,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6781_6789delACTAGTTCA",
"hgvs_p": "p.Thr2261_Ser2263del",
"transcript": "ENST00000530271.6",
"protein_id": "ENSP00000433548.3",
"transcript_support_level": 1,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2833,
"cds_start": 6781,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4798_4806delACTAGTTCA",
"hgvs_p": "p.Thr1600_Ser1602del",
"transcript": "ENST00000535572.5",
"protein_id": "ENSP00000441972.1",
"transcript_support_level": 1,
"aa_start": 1600,
"aa_end": null,
"aa_length": 2134,
"cds_start": 4798,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6322_6330delACTAGTTCA",
"hgvs_p": "p.Thr2108_Ser2110del",
"transcript": "NM_001184985.2",
"protein_id": "NP_001171914.1",
"transcript_support_level": null,
"aa_start": 2108,
"aa_end": null,
"aa_length": 2642,
"cds_start": 6322,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6322_6330delACTAGTTCA",
"hgvs_p": "p.Thr2108_Ser2110del",
"transcript": "ENST00000537687.5",
"protein_id": "ENSP00000444465.1",
"transcript_support_level": 5,
"aa_start": 2108,
"aa_end": null,
"aa_length": 2642,
"cds_start": 6322,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5539_5547delACTAGTTCA",
"hgvs_p": "p.Thr1847_Ser1849del",
"transcript": "ENST00000899151.1",
"protein_id": "ENSP00000569210.1",
"transcript_support_level": null,
"aa_start": 1847,
"aa_end": null,
"aa_length": 2381,
"cds_start": 5539,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5458_5466delACTAGTTCA",
"hgvs_p": "p.Thr1820_Ser1822del",
"transcript": "ENST00000928791.1",
"protein_id": "ENSP00000598850.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 2354,
"cds_start": 5458,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5080_5088delACTAGTTCA",
"hgvs_p": "p.Thr1694_Ser1696del",
"transcript": "ENST00000899157.1",
"protein_id": "ENSP00000569216.1",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 2228,
"cds_start": 5080,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4804_4812delACTAGTTCA",
"hgvs_p": "p.Thr1602_Ser1604del",
"transcript": "ENST00000899150.1",
"protein_id": "ENSP00000569209.1",
"transcript_support_level": null,
"aa_start": 1602,
"aa_end": null,
"aa_length": 2136,
"cds_start": 4804,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4801_4809delACTAGTTCA",
"hgvs_p": "p.Thr1601_Ser1603del",
"transcript": "ENST00000899152.1",
"protein_id": "ENSP00000569211.1",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 2135,
"cds_start": 4801,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4801_4809delACTAGTTCA",
"hgvs_p": "p.Thr1601_Ser1603del",
"transcript": "ENST00000899156.1",
"protein_id": "ENSP00000569215.1",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 2135,
"cds_start": 4801,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4798_4806delACTAGTTCA",
"hgvs_p": "p.Thr1600_Ser1602del",
"transcript": "NM_014823.3",
"protein_id": "NP_055638.2",
"transcript_support_level": null,
"aa_start": 1600,
"aa_end": null,
"aa_length": 2134,
"cds_start": 4798,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4717_4725delACTAGTTCA",
"hgvs_p": "p.Thr1573_Ser1575del",
"transcript": "ENST00000899153.1",
"protein_id": "ENSP00000569212.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 2107,
"cds_start": 4717,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4717_4725delACTAGTTCA",
"hgvs_p": "p.Thr1573_Ser1575del",
"transcript": "ENST00000899154.1",
"protein_id": "ENSP00000569213.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 2107,
"cds_start": 4717,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4714_4722delACTAGTTCA",
"hgvs_p": "p.Thr1572_Ser1574del",
"transcript": "ENST00000899155.1",
"protein_id": "ENSP00000569214.1",
"transcript_support_level": null,
"aa_start": 1572,
"aa_end": null,
"aa_length": 2106,
"cds_start": 4714,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4321_4329delACTAGTTCA",
"hgvs_p": "p.Thr1441_Ser1443del",
"transcript": "ENST00000675631.1",
"protein_id": "ENSP00000502415.1",
"transcript_support_level": null,
"aa_start": 1441,
"aa_end": null,
"aa_length": 1975,
"cds_start": 4321,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2989_2997delACTAGTTCA",
"hgvs_p": "p.Thr997_Ser999del",
"transcript": "ENST00000676347.1",
"protein_id": "ENSP00000501875.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1531,
"cds_start": 2989,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6781_6789delACTAGTTCA",
"hgvs_p": "p.Thr2261_Ser2263del",
"transcript": "XM_011520997.4",
"protein_id": "XP_011519299.1",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2795,
"cds_start": 6781,
"cds_end": null,
"cds_length": 8388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4798_4806delACTAGTTCA",
"hgvs_p": "p.Thr1600_Ser1602del",
"transcript": "XM_047429402.1",
"protein_id": "XP_047285358.1",
"transcript_support_level": null,
"aa_start": 1600,
"aa_end": null,
"aa_length": 2069,
"cds_start": 4798,
"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": "TSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3583_3591delACTAGTTCA",
"hgvs_p": "p.Thr1195_Ser1197del",
"transcript": "XM_047429403.1",
"protein_id": "XP_047285359.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1729,
"cds_start": 3583,
"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"
}
],
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"dbsnp": "rs544395150",
"frequency_reference_population": 0.0024995848,
"hom_count_reference_population": 22,
"allele_count_reference_population": 4034,
"gnomad_exomes_af": 0.00253769,
"gnomad_genomes_af": 0.00213392,
"gnomad_exomes_ac": 3709,
"gnomad_genomes_ac": 325,
"gnomad_exomes_homalt": 22,
"gnomad_genomes_homalt": 0,
"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": 1.498,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "PM4,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 16,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001184985.2",
"gene_symbol": "WNK1",
"hgnc_id": 14540,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.6322_6330delACTAGTTCA",
"hgvs_p": "p.Thr2108_Ser2110del"
}
],
"clinvar_disease": " hereditary sensory and autonomic, type 2A,Neuropathy,Pseudohypoaldosteronism type 2C,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "not provided|Neuropathy, hereditary sensory and autonomic, type 2A;Pseudohypoaldosteronism type 2C|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}