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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: 14-45136079-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=45136079&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 45136079,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_020937.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "NM_020937.4",
"protein_id": "NP_065988.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 2048,
"cds_start": 48,
"cds_end": null,
"cds_length": 6147,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 7131,
"mane_select": "ENST00000267430.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "ENST00000267430.10",
"protein_id": "ENSP00000267430.5",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 2048,
"cds_start": 48,
"cds_end": null,
"cds_length": 6147,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 7131,
"mane_select": "NM_020937.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "ENST00000542564.6",
"protein_id": "ENSP00000442493.2",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 2022,
"cds_start": 48,
"cds_end": null,
"cds_length": 6069,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 6167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "ENST00000556250.6",
"protein_id": "ENSP00000452033.2",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 1979,
"cds_start": 48,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 6924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "ENST00000556036.6",
"protein_id": "ENSP00000450596.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 669,
"cds_start": 48,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 3333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "NM_001308133.2",
"protein_id": "NP_001295062.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 2022,
"cds_start": 48,
"cds_end": null,
"cds_length": 6069,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 7053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "ENST00000696649.1",
"protein_id": "ENSP00000512780.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1996,
"cds_start": 48,
"cds_end": null,
"cds_length": 5991,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "ENST00000696641.1",
"protein_id": "ENSP00000512774.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1353,
"cds_start": 48,
"cds_end": null,
"cds_length": 4063,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "NM_001308134.2",
"protein_id": "NP_001295063.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 669,
"cds_start": 48,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "ENST00000696662.1",
"protein_id": "ENSP00000512788.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 643,
"cds_start": 48,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "ENST00000696682.1",
"protein_id": "ENSP00000512805.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 607,
"cds_start": 48,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 69,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "ENST00000696643.1",
"protein_id": "ENSP00000512776.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 541,
"cds_start": 48,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 74,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "ENST00000696680.1",
"protein_id": "ENSP00000512803.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 482,
"cds_start": 48,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "ENST00000554030.2",
"protein_id": "ENSP00000512773.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 248,
"cds_start": 48,
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"cds_length": 747,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 2798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "ENST00000696676.1",
"protein_id": "ENSP00000512800.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 181,
"cds_start": 48,
"cds_end": null,
"cds_length": 546,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "XM_011537034.3",
"protein_id": "XP_011535336.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 2053,
"cds_start": 48,
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"cdna_start": 150,
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"cdna_length": 7146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "XM_011537035.4",
"protein_id": "XP_011535337.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 2027,
"cds_start": 48,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "XM_017021523.2",
"protein_id": "XP_016877012.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1801,
"cds_start": 48,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 6478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "XM_047431631.1",
"protein_id": "XP_047287587.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1801,
"cds_start": 48,
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"cdna_start": 150,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "XM_047431632.1",
"protein_id": "XP_047287588.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1796,
"cds_start": 48,
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"cdna_start": 150,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Ile16Ile",
"transcript": "XM_047431633.1",
"protein_id": "XP_047287589.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1796,
"cds_start": 48,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 5636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.48C>T",
"hgvs_p": null,
"transcript": "ENST00000696642.1",
"protein_id": "ENSP00000512775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.48C>T",
"hgvs_p": null,
"transcript": "ENST00000696646.1",
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}
],
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}