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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: 2-217818431-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=217818431&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 217818431,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000682258.1",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3901T>G",
"hgvs_p": "p.Trp1301Gly",
"transcript": "NM_001387777.1",
"protein_id": "NP_001374706.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1839,
"cds_start": 3901,
"cds_end": null,
"cds_length": 5520,
"cdna_start": 4024,
"cdna_end": null,
"cdna_length": 10311,
"mane_select": "ENST00000682258.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3901T>G",
"hgvs_p": "p.Trp1301Gly",
"transcript": "ENST00000682258.1",
"protein_id": "ENSP00000506917.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1839,
"cds_start": 3901,
"cds_end": null,
"cds_length": 5520,
"cdna_start": 4024,
"cdna_end": null,
"cdna_length": 10311,
"mane_select": "NM_001387777.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3589T>G",
"hgvs_p": "p.Trp1197Gly",
"transcript": "ENST00000171887.8",
"protein_id": "ENSP00000171887.4",
"transcript_support_level": 1,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1735,
"cds_start": 3589,
"cds_end": null,
"cds_length": 5208,
"cdna_start": 4042,
"cdna_end": null,
"cdna_length": 10331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3550T>G",
"hgvs_p": "p.Trp1184Gly",
"transcript": "ENST00000419504.6",
"protein_id": "ENSP00000408724.1",
"transcript_support_level": 1,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1721,
"cds_start": 3550,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 3945,
"cdna_end": null,
"cdna_length": 6154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.922T>G",
"hgvs_p": "p.Trp308Gly",
"transcript": "ENST00000446688.5",
"protein_id": "ENSP00000394171.2",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 846,
"cds_start": 922,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3964T>G",
"hgvs_p": "p.Trp1322Gly",
"transcript": "NM_001438865.1",
"protein_id": "NP_001425794.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1860,
"cds_start": 3964,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 4044,
"cdna_end": null,
"cdna_length": 10331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3964T>G",
"hgvs_p": "p.Trp1322Gly",
"transcript": "ENST00000646520.1",
"protein_id": "ENSP00000493967.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1860,
"cds_start": 3964,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 4190,
"cdna_end": null,
"cdna_length": 10680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3901T>G",
"hgvs_p": "p.Trp1301Gly",
"transcript": "NM_001438866.1",
"protein_id": "NP_001425795.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1838,
"cds_start": 3901,
"cds_end": null,
"cds_length": 5517,
"cdna_start": 4024,
"cdna_end": null,
"cdna_length": 10308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3865T>G",
"hgvs_p": "p.Trp1289Gly",
"transcript": "ENST00000651849.1",
"protein_id": "ENSP00000498399.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1827,
"cds_start": 3865,
"cds_end": null,
"cds_length": 5484,
"cdna_start": 3865,
"cdna_end": null,
"cdna_length": 10148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3721T>G",
"hgvs_p": "p.Trp1241Gly",
"transcript": "NM_001438867.1",
"protein_id": "NP_001425796.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1779,
"cds_start": 3721,
"cds_end": null,
"cds_length": 5340,
"cdna_start": 4286,
"cdna_end": null,
"cdna_length": 10573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3676T>G",
"hgvs_p": "p.Trp1226Gly",
"transcript": "ENST00000705226.1",
"protein_id": "ENSP00000516092.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1764,
"cds_start": 3676,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 4129,
"cdna_end": null,
"cdna_length": 10418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3589T>G",
"hgvs_p": "p.Trp1197Gly",
"transcript": "NM_022648.7",
"protein_id": "NP_072174.3",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1735,
"cds_start": 3589,
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"cds_length": 5208,
"cdna_start": 3984,
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"cdna_length": 10271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3550T>G",
"hgvs_p": "p.Trp1184Gly",
"transcript": "NM_001308022.2",
"protein_id": "NP_001294951.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1721,
"cds_start": 3550,
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"cds_length": 5166,
"cdna_start": 3739,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3526T>G",
"hgvs_p": "p.Trp1176Gly",
"transcript": "NM_001308023.2",
"protein_id": "NP_001294952.1",
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"aa_start": 1176,
"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3526T>G",
"hgvs_p": "p.Trp1176Gly",
"transcript": "ENST00000615025.6",
"protein_id": "ENSP00000480559.2",
"transcript_support_level": 5,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1714,
"cds_start": 3526,
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"cdna_start": 3921,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.2197T>G",
"hgvs_p": "p.Trp733Gly",
"transcript": "NM_001438868.1",
"protein_id": "NP_001425797.1",
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"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.2158T>G",
"hgvs_p": "p.Trp720Gly",
"transcript": "NM_001438869.1",
"protein_id": "NP_001425798.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2158,
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"cds_length": 3777,
"cdna_start": 2565,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.4717T>G",
"hgvs_p": "p.Trp1573Gly",
"transcript": "XM_047445636.1",
"protein_id": "XP_047301592.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 2111,
"cds_start": 4717,
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"cdna_start": 4797,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
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"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.4522T>G",
"hgvs_p": "p.Trp1508Gly",
"transcript": "XM_047445637.1",
"protein_id": "XP_047301593.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.4462T>G",
"hgvs_p": "p.Trp1488Gly",
"transcript": "XM_047445638.1",
"protein_id": "XP_047301594.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"intron_rank": null,
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"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.4402T>G",
"hgvs_p": "p.Trp1468Gly",
"transcript": "XM_024453078.2",
"protein_id": "XP_024308846.2",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 2006,
"cds_start": 4402,
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"cdna_start": 5690,
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"cdna_length": 11977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.4399T>G",
"hgvs_p": "p.Trp1467Gly",
"transcript": "XM_024453079.2",
"protein_id": "XP_024308847.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 2005,
"cds_start": 4399,
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"cds_length": 6018,
"cdna_start": 4522,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
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