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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: 13-100624630-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=100624630&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 100624630,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001350571.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1836+905T>G",
"hgvs_p": null,
"transcript": "NM_032813.5",
"protein_id": "NP_116202.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": null,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342624.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032813.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1836+905T>G",
"hgvs_p": null,
"transcript": "ENST00000342624.10",
"protein_id": "ENSP00000343871.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": null,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032813.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342624.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1779+905T>G",
"hgvs_p": null,
"transcript": "ENST00000376234.7",
"protein_id": "ENSP00000365408.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": null,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376234.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.2010+905T>G",
"hgvs_p": null,
"transcript": "NM_001350571.2",
"protein_id": "NP_001337500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": null,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350571.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.2010+905T>G",
"hgvs_p": null,
"transcript": "ENST00000861694.1",
"protein_id": "ENSP00000531753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": null,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861694.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.2010+905T>G",
"hgvs_p": null,
"transcript": "ENST00000861696.1",
"protein_id": "ENSP00000531755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 815,
"cds_start": null,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861696.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1953+905T>G",
"hgvs_p": null,
"transcript": "NM_001350574.2",
"protein_id": "NP_001337503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": null,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350574.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1836+905T>G",
"hgvs_p": null,
"transcript": "ENST00000861697.1",
"protein_id": "ENSP00000531756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 773,
"cds_start": null,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861697.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1836+905T>G",
"hgvs_p": null,
"transcript": "ENST00000861692.1",
"protein_id": "ENSP00000531751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": null,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1836+905T>G",
"hgvs_p": null,
"transcript": "ENST00000861701.1",
"protein_id": "ENSP00000531760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": null,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1836+905T>G",
"hgvs_p": null,
"transcript": "ENST00000930118.1",
"protein_id": "ENSP00000600177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": null,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930118.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1836+905T>G",
"hgvs_p": null,
"transcript": "ENST00000930120.1",
"protein_id": "ENSP00000600179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": null,
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"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930120.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1830+905T>G",
"hgvs_p": null,
"transcript": "NM_001350576.2",
"protein_id": "NP_001337505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
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"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350576.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1830+905T>G",
"hgvs_p": null,
"transcript": "ENST00000861695.1",
"protein_id": "ENSP00000531754.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861695.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1836+905T>G",
"hgvs_p": null,
"transcript": "ENST00000861693.1",
"protein_id": "ENSP00000531752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861693.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1836+905T>G",
"hgvs_p": null,
"transcript": "ENST00000930119.1",
"protein_id": "ENSP00000600178.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930119.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1779+905T>G",
"hgvs_p": null,
"transcript": "NM_001079669.4",
"protein_id": "NP_001073137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": null,
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"cds_length": 2226,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079669.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1779+905T>G",
"hgvs_p": null,
"transcript": "NM_001350572.2",
"protein_id": "NP_001337501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350572.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1773+905T>G",
"hgvs_p": null,
"transcript": "NM_001350577.2",
"protein_id": "NP_001337506.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350577.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1743+905T>G",
"hgvs_p": null,
"transcript": "ENST00000861700.1",
"protein_id": "ENSP00000531759.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861700.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1647+905T>G",
"hgvs_p": null,
"transcript": "ENST00000861698.1",
"protein_id": "ENSP00000531757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 697,
"cds_start": null,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861698.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1554+905T>G",
"hgvs_p": null,
"transcript": "ENST00000861699.1",
"protein_id": "ENSP00000531758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": null,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861699.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"verdict": "Likely_benign",
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{
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],
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}
],
"message": null
}