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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: 2-201741784-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201741784&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201741784,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "ENST00000264276.11",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "NM_020919.4",
"protein_id": "NP_065970.2",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1657,
"cds_start": 2241,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": "ENST00000264276.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000264276.11",
"protein_id": "ENSP00000264276.6",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 1657,
"cds_start": 2241,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": "NM_020919.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.2583C>G",
"hgvs_p": null,
"transcript": "ENST00000482789.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.2583C>G",
"hgvs_p": null,
"transcript": "ENST00000482891.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 5399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2343C>G",
"hgvs_p": "p.Tyr781*",
"transcript": "ENST00000680497.1",
"protein_id": "ENSP00000505954.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 1691,
"cds_start": 2343,
"cds_end": null,
"cds_length": 5076,
"cdna_start": 2601,
"cdna_end": null,
"cdna_length": 6619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000679516.1",
"protein_id": "ENSP00000505187.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1657,
"cds_start": 2241,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 6517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000680163.1",
"protein_id": "ENSP00000505092.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1657,
"cds_start": 2241,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 2625,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000680861.1",
"protein_id": "ENSP00000505043.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1657,
"cds_start": 2241,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 2732,
"cdna_end": null,
"cdna_length": 6751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "NM_001410975.1",
"protein_id": "NP_001397904.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1656,
"cds_start": 2241,
"cds_end": null,
"cds_length": 4971,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000681619.1",
"protein_id": "ENSP00000505071.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1656,
"cds_start": 2241,
"cds_end": null,
"cds_length": 4971,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000680000.1",
"protein_id": "ENSP00000506173.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1651,
"cds_start": 2241,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 7604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000680814.1",
"protein_id": "ENSP00000505710.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1614,
"cds_start": 2241,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 5727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000680759.1",
"protein_id": "ENSP00000505848.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1601,
"cds_start": 2241,
"cds_end": null,
"cds_length": 4806,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000681808.1",
"protein_id": "ENSP00000505219.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1598,
"cds_start": 2241,
"cds_end": null,
"cds_length": 4797,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 6423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000681152.1",
"protein_id": "ENSP00000505388.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1237,
"cds_start": 2241,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 3201,
"cdna_end": null,
"cdna_length": 5647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000681303.1",
"protein_id": "ENSP00000505576.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1237,
"cds_start": 2241,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000679550.1",
"protein_id": "ENSP00000506193.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 812,
"cds_start": 2241,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 3815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000679939.1",
"protein_id": "ENSP00000505704.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 812,
"cds_start": 2241,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2518,
"cdna_end": null,
"cdna_length": 3692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "ENST00000680287.1",
"protein_id": "ENSP00000506547.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 812,
"cds_start": 2241,
"cds_end": null,
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"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2193C>G",
"hgvs_p": "p.Tyr731*",
"transcript": "ENST00000679949.1",
"protein_id": "ENSP00000505232.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 796,
"cds_start": 2193,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2535,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
"hgvs_p": "p.Tyr747*",
"transcript": "XM_006712654.4",
"protein_id": "XP_006712717.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1657,
"cds_start": 2241,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 3256,
"cdna_end": null,
"cdna_length": 7573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.1902C>G",
"hgvs_p": "p.Tyr634*",
"transcript": "XM_047445224.1",
"protein_id": "XP_047301180.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 1544,
"cds_start": 1902,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 6625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.2241C>G",
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}
],
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}