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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: 2-217809974-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=217809974&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 217809974,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000682258.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.5122G>A",
"hgvs_p": "p.Val1708Ile",
"transcript": "NM_001387777.1",
"protein_id": "NP_001374706.1",
"transcript_support_level": null,
"aa_start": 1708,
"aa_end": null,
"aa_length": 1839,
"cds_start": 5122,
"cds_end": null,
"cds_length": 5520,
"cdna_start": 5245,
"cdna_end": null,
"cdna_length": 10311,
"mane_select": "ENST00000682258.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.5122G>A",
"hgvs_p": "p.Val1708Ile",
"transcript": "ENST00000682258.1",
"protein_id": "ENSP00000506917.1",
"transcript_support_level": null,
"aa_start": 1708,
"aa_end": null,
"aa_length": 1839,
"cds_start": 5122,
"cds_end": null,
"cds_length": 5520,
"cdna_start": 5245,
"cdna_end": null,
"cdna_length": 10311,
"mane_select": "NM_001387777.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.4810G>A",
"hgvs_p": "p.Val1604Ile",
"transcript": "ENST00000171887.8",
"protein_id": "ENSP00000171887.4",
"transcript_support_level": 1,
"aa_start": 1604,
"aa_end": null,
"aa_length": 1735,
"cds_start": 4810,
"cds_end": null,
"cds_length": 5208,
"cdna_start": 5263,
"cdna_end": null,
"cdna_length": 10331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.4768G>A",
"hgvs_p": "p.Val1590Ile",
"transcript": "ENST00000419504.6",
"protein_id": "ENSP00000408724.1",
"transcript_support_level": 1,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4768,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 5163,
"cdna_end": null,
"cdna_length": 6154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Val715Ile",
"transcript": "ENST00000446688.5",
"protein_id": "ENSP00000394171.2",
"transcript_support_level": 1,
"aa_start": 715,
"aa_end": null,
"aa_length": 846,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.5185G>A",
"hgvs_p": "p.Val1729Ile",
"transcript": "NM_001438865.1",
"protein_id": "NP_001425794.1",
"transcript_support_level": null,
"aa_start": 1729,
"aa_end": null,
"aa_length": 1860,
"cds_start": 5185,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 5265,
"cdna_end": null,
"cdna_length": 10331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.5185G>A",
"hgvs_p": "p.Val1729Ile",
"transcript": "ENST00000646520.1",
"protein_id": "ENSP00000493967.1",
"transcript_support_level": null,
"aa_start": 1729,
"aa_end": null,
"aa_length": 1860,
"cds_start": 5185,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 5411,
"cdna_end": null,
"cdna_length": 10680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.5119G>A",
"hgvs_p": "p.Val1707Ile",
"transcript": "NM_001438866.1",
"protein_id": "NP_001425795.1",
"transcript_support_level": null,
"aa_start": 1707,
"aa_end": null,
"aa_length": 1838,
"cds_start": 5119,
"cds_end": null,
"cds_length": 5517,
"cdna_start": 5242,
"cdna_end": null,
"cdna_length": 10308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.5086G>A",
"hgvs_p": "p.Val1696Ile",
"transcript": "ENST00000651849.1",
"protein_id": "ENSP00000498399.1",
"transcript_support_level": null,
"aa_start": 1696,
"aa_end": null,
"aa_length": 1827,
"cds_start": 5086,
"cds_end": null,
"cds_length": 5484,
"cdna_start": 5086,
"cdna_end": null,
"cdna_length": 10148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.4942G>A",
"hgvs_p": "p.Val1648Ile",
"transcript": "NM_001438867.1",
"protein_id": "NP_001425796.1",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1779,
"cds_start": 4942,
"cds_end": null,
"cds_length": 5340,
"cdna_start": 5507,
"cdna_end": null,
"cdna_length": 10573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.4897G>A",
"hgvs_p": "p.Val1633Ile",
"transcript": "ENST00000705226.1",
"protein_id": "ENSP00000516092.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 1764,
"cds_start": 4897,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 5350,
"cdna_end": null,
"cdna_length": 10418,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.4810G>A",
"hgvs_p": "p.Val1604Ile",
"transcript": "NM_022648.7",
"protein_id": "NP_072174.3",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 1735,
"cds_start": 4810,
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"cds_length": 5208,
"cdna_start": 5205,
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"cdna_length": 10271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.4768G>A",
"hgvs_p": "p.Val1590Ile",
"transcript": "NM_001308022.2",
"protein_id": "NP_001294951.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4768,
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"cds_length": 5166,
"cdna_start": 4957,
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"cdna_length": 10023,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.4747G>A",
"hgvs_p": "p.Val1583Ile",
"transcript": "NM_001308023.2",
"protein_id": "NP_001294952.1",
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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": 31,
"intron_rank": null,
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"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.4747G>A",
"hgvs_p": "p.Val1583Ile",
"transcript": "ENST00000615025.6",
"protein_id": "ENSP00000480559.2",
"transcript_support_level": 5,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1714,
"cds_start": 4747,
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"cdna_start": 5142,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3418G>A",
"hgvs_p": "p.Val1140Ile",
"transcript": "NM_001438868.1",
"protein_id": "NP_001425797.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.3379G>A",
"hgvs_p": "p.Val1127Ile",
"transcript": "NM_001438869.1",
"protein_id": "NP_001425798.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3379,
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"cdna_start": 3786,
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"cdna_length": 8852,
"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.5938G>A",
"hgvs_p": "p.Val1980Ile",
"transcript": "XM_047445636.1",
"protein_id": "XP_047301592.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2111,
"cds_start": 5938,
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"cdna_start": 6018,
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"mane_select": null,
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},
{
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"strand": false,
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],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
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"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.5743G>A",
"hgvs_p": "p.Val1915Ile",
"transcript": "XM_047445637.1",
"protein_id": "XP_047301593.1",
"transcript_support_level": null,
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},
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.5683G>A",
"hgvs_p": "p.Val1895Ile",
"transcript": "XM_047445638.1",
"protein_id": "XP_047301594.1",
"transcript_support_level": null,
"aa_start": 1895,
"aa_end": null,
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"cds_start": 5683,
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},
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"consequences": [
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],
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"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.5623G>A",
"hgvs_p": "p.Val1875Ile",
"transcript": "XM_024453078.2",
"protein_id": "XP_024308846.2",
"transcript_support_level": null,
"aa_start": 1875,
"aa_end": null,
"aa_length": 2006,
"cds_start": 5623,
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"cds_length": 6021,
"cdna_start": 6911,
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"cdna_length": 11977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS1",
"gene_hgnc_id": 11973,
"hgvs_c": "c.5620G>A",
"hgvs_p": "p.Val1874Ile",
"transcript": "XM_024453079.2",
"protein_id": "XP_024308847.1",
"transcript_support_level": null,
"aa_start": 1874,
"aa_end": null,
"aa_length": 2005,
"cds_start": 5620,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 5743,
"cdna_end": null,
"cdna_length": 10809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
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