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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: 1-161848238-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161848238&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161848238,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000367942.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1319+1658A>C",
"hgvs_p": null,
"transcript": "NM_007348.4",
"protein_id": "NP_031374.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7470,
"mane_select": "ENST00000367942.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1319+1658A>C",
"hgvs_p": null,
"transcript": "ENST00000367942.4",
"protein_id": "ENSP00000356919.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7470,
"mane_select": "NM_007348.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1319+1658A>C",
"hgvs_p": null,
"transcript": "ENST00000681492.1",
"protein_id": "ENSP00000506139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1319+1658A>C",
"hgvs_p": null,
"transcript": "NM_001437597.1",
"protein_id": "NP_001424526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 689,
"cds_start": -4,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1319+1658A>C",
"hgvs_p": null,
"transcript": "ENST00000680688.1",
"protein_id": "ENSP00000504865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 689,
"cds_start": -4,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1319+1658A>C",
"hgvs_p": null,
"transcript": "NM_001410890.1",
"protein_id": "NP_001397819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": -4,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1319+1658A>C",
"hgvs_p": null,
"transcript": "ENST00000679853.1",
"protein_id": "ENSP00000506149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": -4,
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"cds_length": 2010,
"cdna_start": null,
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"cdna_length": 5509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1319+1658A>C",
"hgvs_p": null,
"transcript": "ENST00000680462.1",
"protein_id": "ENSP00000505583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": -4,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1121+1658A>C",
"hgvs_p": null,
"transcript": "ENST00000681036.1",
"protein_id": "ENSP00000505474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": -4,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1121+1658A>C",
"hgvs_p": null,
"transcript": "ENST00000681541.1",
"protein_id": "ENSP00000506087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2996,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 10,
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"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.1319+1658A>C",
"hgvs_p": null,
"transcript": "ENST00000679833.1",
"protein_id": "ENSP00000505321.1",
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},
{
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],
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"gene_symbol": "ATF6",
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"transcript": "ENST00000681912.1",
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},
{
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],
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"gene_symbol": "ATF6",
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"hgvs_c": "c.713+1658A>C",
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"transcript": "ENST00000679886.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "ATF6",
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},
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],
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},
{
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],
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"exon_count": 16,
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"gene_symbol": "ATF6",
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"hgvs_c": "n.*942+1658A>C",
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],
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},
{
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],
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"gene_symbol": "ATF6",
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"hgvs_c": "n.*237+1658A>C",
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"transcript": "ENST00000681169.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "ATF6",
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},
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],
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],
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],
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},
{
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],
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"exon_count": 17,
"intron_rank": 10,
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"gene_symbol": "ATF6",
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"hgvs_c": "n.1319+1658A>C",
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},
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}
],
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}