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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: 3-49121990-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49121990&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49121990,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002292.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4877G>A",
"hgvs_p": "p.Arg1626Gln",
"transcript": "NM_002292.4",
"protein_id": "NP_002283.3",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1798,
"cds_start": 4877,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000305544.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002292.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4877G>A",
"hgvs_p": "p.Arg1626Gln",
"transcript": "ENST00000305544.9",
"protein_id": "ENSP00000307156.4",
"transcript_support_level": 1,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1798,
"cds_start": 4877,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002292.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305544.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4877G>A",
"hgvs_p": "p.Arg1626Gln",
"transcript": "ENST00000418109.5",
"protein_id": "ENSP00000388325.1",
"transcript_support_level": 1,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1798,
"cds_start": 4877,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418109.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4919G>A",
"hgvs_p": "p.Arg1640Gln",
"transcript": "ENST00000960189.1",
"protein_id": "ENSP00000630248.1",
"transcript_support_level": null,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1812,
"cds_start": 4919,
"cds_end": null,
"cds_length": 5439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960189.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4919G>A",
"hgvs_p": "p.Arg1640Gln",
"transcript": "ENST00000960202.1",
"protein_id": "ENSP00000630261.1",
"transcript_support_level": null,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1812,
"cds_start": 4919,
"cds_end": null,
"cds_length": 5439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960202.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4904G>A",
"hgvs_p": "p.Arg1635Gln",
"transcript": "ENST00000960193.1",
"protein_id": "ENSP00000630252.1",
"transcript_support_level": null,
"aa_start": 1635,
"aa_end": null,
"aa_length": 1807,
"cds_start": 4904,
"cds_end": null,
"cds_length": 5424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960193.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4889G>A",
"hgvs_p": "p.Arg1630Gln",
"transcript": "ENST00000884814.1",
"protein_id": "ENSP00000554873.1",
"transcript_support_level": null,
"aa_start": 1630,
"aa_end": null,
"aa_length": 1802,
"cds_start": 4889,
"cds_end": null,
"cds_length": 5409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884814.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4889G>A",
"hgvs_p": "p.Arg1630Gln",
"transcript": "ENST00000960192.1",
"protein_id": "ENSP00000630251.1",
"transcript_support_level": null,
"aa_start": 1630,
"aa_end": null,
"aa_length": 1800,
"cds_start": 4889,
"cds_end": null,
"cds_length": 5403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960192.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4874G>A",
"hgvs_p": "p.Arg1625Gln",
"transcript": "ENST00000960197.1",
"protein_id": "ENSP00000630256.1",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 1797,
"cds_start": 4874,
"cds_end": null,
"cds_length": 5394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960197.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4877G>A",
"hgvs_p": "p.Arg1626Gln",
"transcript": "ENST00000884810.1",
"protein_id": "ENSP00000554869.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1796,
"cds_start": 4877,
"cds_end": null,
"cds_length": 5391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884810.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4868G>A",
"hgvs_p": "p.Arg1623Gln",
"transcript": "ENST00000921218.1",
"protein_id": "ENSP00000591277.1",
"transcript_support_level": null,
"aa_start": 1623,
"aa_end": null,
"aa_length": 1795,
"cds_start": 4868,
"cds_end": null,
"cds_length": 5388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921218.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4868G>A",
"hgvs_p": "p.Arg1623Gln",
"transcript": "ENST00000960188.1",
"protein_id": "ENSP00000630247.1",
"transcript_support_level": null,
"aa_start": 1623,
"aa_end": null,
"aa_length": 1795,
"cds_start": 4868,
"cds_end": null,
"cds_length": 5388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960188.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4856G>A",
"hgvs_p": "p.Arg1619Gln",
"transcript": "ENST00000960187.1",
"protein_id": "ENSP00000630246.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960187.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4811G>A",
"hgvs_p": "p.Arg1604Gln",
"transcript": "ENST00000960195.1",
"protein_id": "ENSP00000630254.1",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 1776,
"cds_start": 4811,
"cds_end": null,
"cds_length": 5331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960195.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4811G>A",
"hgvs_p": "p.Arg1604Gln",
"transcript": "ENST00000960203.1",
"protein_id": "ENSP00000630262.1",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 1776,
"cds_start": 4811,
"cds_end": null,
"cds_length": 5331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960203.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4877G>A",
"hgvs_p": "p.Arg1626Gln",
"transcript": "ENST00000960199.1",
"protein_id": "ENSP00000630258.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1767,
"cds_start": 4877,
"cds_end": null,
"cds_length": 5304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960199.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4769G>A",
"hgvs_p": "p.Arg1590Gln",
"transcript": "ENST00000960186.1",
"protein_id": "ENSP00000630245.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1762,
"cds_start": 4769,
"cds_end": null,
"cds_length": 5289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960186.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4766G>A",
"hgvs_p": "p.Arg1589Gln",
"transcript": "ENST00000884809.1",
"protein_id": "ENSP00000554868.1",
"transcript_support_level": null,
"aa_start": 1589,
"aa_end": null,
"aa_length": 1761,
"cds_start": 4766,
"cds_end": null,
"cds_length": 5286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884809.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4766G>A",
"hgvs_p": "p.Arg1589Gln",
"transcript": "ENST00000960191.1",
"protein_id": "ENSP00000630250.1",
"transcript_support_level": null,
"aa_start": 1589,
"aa_end": null,
"aa_length": 1759,
"cds_start": 4766,
"cds_end": null,
"cds_length": 5280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960191.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4733G>A",
"hgvs_p": "p.Arg1578Gln",
"transcript": "ENST00000884815.1",
"protein_id": "ENSP00000554874.1",
"transcript_support_level": null,
"aa_start": 1578,
"aa_end": null,
"aa_length": 1750,
"cds_start": 4733,
"cds_end": null,
"cds_length": 5253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884815.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4718G>A",
"hgvs_p": "p.Arg1573Gln",
"transcript": "ENST00000960185.1",
"protein_id": "ENSP00000630244.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1745,
"cds_start": 4718,
"cds_end": null,
"cds_length": 5238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960185.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "LAMB2",
"gene_hgnc_id": 6487,
"hgvs_c": "c.4715G>A",
"hgvs_p": "p.Arg1572Gln",
"transcript": "ENST00000960198.1",
"protein_id": "ENSP00000630257.1",
"transcript_support_level": null,
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}
],
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}