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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-G-GCAACTAGTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=894591&ref=G&alt=GCAACTAGTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 894591,
"ref": "G",
"alt": "GCAACTAGTT",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000315939.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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_6306dupACTAGTTCA",
"hgvs_p": "p.Thr2100_Ser2102dup",
"transcript": "NM_213655.5",
"protein_id": "NP_998820.3",
"transcript_support_level": null,
"aa_start": 2103,
"aa_end": null,
"aa_length": 2634,
"cds_start": 6307,
"cds_end": null,
"cds_length": 7905,
"cdna_start": 7294,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "ENST00000340908.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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_6306dupACTAGTTCA",
"hgvs_p": "p.Thr2100_Ser2102dup",
"transcript": "ENST00000340908.9",
"protein_id": "ENSP00000341292.5",
"transcript_support_level": 5,
"aa_start": 2103,
"aa_end": null,
"aa_length": 2634,
"cds_start": 6307,
"cds_end": null,
"cds_length": 7905,
"cdna_start": 7294,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "NM_213655.5",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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_5550dupACTAGTTCA",
"hgvs_p": "p.Thr1848_Ser1850dup",
"transcript": "NM_018979.4",
"protein_id": "NP_061852.3",
"transcript_support_level": null,
"aa_start": 1851,
"aa_end": null,
"aa_length": 2382,
"cds_start": 5551,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 6538,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "ENST00000315939.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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_5550dupACTAGTTCA",
"hgvs_p": "p.Thr1848_Ser1850dup",
"transcript": "ENST00000315939.11",
"protein_id": "ENSP00000313059.6",
"transcript_support_level": 1,
"aa_start": 1851,
"aa_end": null,
"aa_length": 2382,
"cds_start": 5551,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 6538,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "NM_018979.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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_6789dupACTAGTTCA",
"hgvs_p": "p.Thr2261_Ser2263dup",
"transcript": "ENST00000530271.6",
"protein_id": "ENSP00000433548.3",
"transcript_support_level": 1,
"aa_start": 2264,
"aa_end": null,
"aa_length": 2833,
"cds_start": 6790,
"cds_end": null,
"cds_length": 8502,
"cdna_start": 7433,
"cdna_end": null,
"cdna_length": 11804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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_4806dupACTAGTTCA",
"hgvs_p": "p.Thr1600_Ser1602dup",
"transcript": "ENST00000535572.5",
"protein_id": "ENSP00000441972.1",
"transcript_support_level": 1,
"aa_start": 1603,
"aa_end": null,
"aa_length": 2134,
"cds_start": 4807,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 5780,
"cdna_end": null,
"cdna_length": 9886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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_6330dupACTAGTTCA",
"hgvs_p": "p.Thr2108_Ser2110dup",
"transcript": "NM_001184985.2",
"protein_id": "NP_001171914.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2642,
"cds_start": 6331,
"cds_end": null,
"cds_length": 7929,
"cdna_start": 7318,
"cdna_end": null,
"cdna_length": 11576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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_6330dupACTAGTTCA",
"hgvs_p": "p.Thr2108_Ser2110dup",
"transcript": "ENST00000537687.5",
"protein_id": "ENSP00000444465.1",
"transcript_support_level": 5,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2642,
"cds_start": 6331,
"cds_end": null,
"cds_length": 7929,
"cdna_start": 6974,
"cdna_end": null,
"cdna_length": 11232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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_4806dupACTAGTTCA",
"hgvs_p": "p.Thr1600_Ser1602dup",
"transcript": "NM_014823.3",
"protein_id": "NP_055638.2",
"transcript_support_level": null,
"aa_start": 1603,
"aa_end": null,
"aa_length": 2134,
"cds_start": 4807,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 5794,
"cdna_end": null,
"cdna_length": 10052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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_4329dupACTAGTTCA",
"hgvs_p": "p.Thr1441_Ser1443dup",
"transcript": "ENST00000675631.1",
"protein_id": "ENSP00000502415.1",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1975,
"cds_start": 4330,
"cds_end": null,
"cds_length": 5928,
"cdna_start": 4599,
"cdna_end": null,
"cdna_length": 8857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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_2997dupACTAGTTCA",
"hgvs_p": "p.Thr997_Ser999dup",
"transcript": "ENST00000676347.1",
"protein_id": "ENSP00000501875.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1531,
"cds_start": 2998,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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_6789dupACTAGTTCA",
"hgvs_p": "p.Thr2261_Ser2263dup",
"transcript": "XM_011520997.4",
"protein_id": "XP_011519299.1",
"transcript_support_level": null,
"aa_start": 2264,
"aa_end": null,
"aa_length": 2795,
"cds_start": 6790,
"cds_end": null,
"cds_length": 8388,
"cdna_start": 7777,
"cdna_end": null,
"cdna_length": 12035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.6778_6786dupACTAGTTCA",
"hgvs_p": "p.Thr2260_Ser2262dup",
"transcript": "XM_011520998.3",
"protein_id": "XP_011519300.1",
"transcript_support_level": null,
"aa_start": 2263,
"aa_end": null,
"aa_length": 2794,
"cds_start": 6787,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 7774,
"cdna_end": null,
"cdna_length": 12032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.6778_6786dupACTAGTTCA",
"hgvs_p": "p.Thr2260_Ser2262dup",
"transcript": "XM_011520999.3",
"protein_id": "XP_011519301.1",
"transcript_support_level": null,
"aa_start": 2263,
"aa_end": null,
"aa_length": 2794,
"cds_start": 6787,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 7774,
"cdna_end": null,
"cdna_length": 12032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6781_6789dupACTAGTTCA",
"hgvs_p": "p.Thr2261_Ser2263dup",
"transcript": "XM_011521000.3",
"protein_id": "XP_011519302.1",
"transcript_support_level": null,
"aa_start": 2264,
"aa_end": null,
"aa_length": 2730,
"cds_start": 6790,
"cds_end": null,
"cds_length": 8193,
"cdna_start": 7777,
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"cdna_length": 11840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6778_6786dupACTAGTTCA",
"hgvs_p": "p.Thr2260_Ser2262dup",
"transcript": "XM_047429374.1",
"protein_id": "XP_047285330.1",
"transcript_support_level": null,
"aa_start": 2263,
"aa_end": null,
"aa_length": 2729,
"cds_start": 6787,
"cds_end": null,
"cds_length": 8190,
"cdna_start": 7774,
"cdna_end": null,
"cdna_length": 11837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.6502_6510dupACTAGTTCA",
"hgvs_p": "p.Thr2168_Ser2170dup",
"transcript": "XM_011521001.3",
"protein_id": "XP_011519303.1",
"transcript_support_level": null,
"aa_start": 2171,
"aa_end": null,
"aa_length": 2702,
"cds_start": 6511,
"cds_end": null,
"cds_length": 8109,
"cdna_start": 7498,
"cdna_end": null,
"cdna_length": 11756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.6499_6507dupACTAGTTCA",
"hgvs_p": "p.Thr2167_Ser2169dup",
"transcript": "XM_047429375.1",
"protein_id": "XP_047285331.1",
"transcript_support_level": null,
"aa_start": 2170,
"aa_end": null,
"aa_length": 2701,
"cds_start": 6508,
"cds_end": null,
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"cdna_start": 7495,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.6319_6327dupACTAGTTCA",
"hgvs_p": "p.Thr2107_Ser2109dup",
"transcript": "XM_011521002.3",
"protein_id": "XP_011519304.1",
"transcript_support_level": null,
"aa_start": 2110,
"aa_end": null,
"aa_length": 2641,
"cds_start": 6328,
"cds_end": null,
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"cdna_start": 7315,
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"cdna_length": 11573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.6319_6327dupACTAGTTCA",
"hgvs_p": "p.Thr2107_Ser2109dup",
"transcript": "XM_047429376.1",
"protein_id": "XP_047285332.1",
"transcript_support_level": null,
"aa_start": 2110,
"aa_end": null,
"aa_length": 2641,
"cds_start": 6328,
"cds_end": null,
"cds_length": 7926,
"cdna_start": 7315,
"cdna_end": null,
"cdna_length": 11573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.6043_6051dupACTAGTTCA",
"hgvs_p": "p.Thr2015_Ser2017dup",
"transcript": "XM_011521003.3",
"protein_id": "XP_011519305.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2549,
"cds_start": 6052,
"cds_end": null,
"cds_length": 7650,
"cdna_start": 7039,
"cdna_end": null,
"cdna_length": 11297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "TSSG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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}
],
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}