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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: 3-15560879-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15560879&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15560879,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012260.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1723C>G",
"hgvs_p": "p.Arg575Gly",
"transcript": "NM_012260.4",
"protein_id": "NP_036392.2",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 578,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": "ENST00000321169.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012260.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1723C>G",
"hgvs_p": "p.Arg575Gly",
"transcript": "ENST00000321169.10",
"protein_id": "ENSP00000323811.5",
"transcript_support_level": 1,
"aa_start": 575,
"aa_end": null,
"aa_length": 578,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": "NM_012260.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321169.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "n.*1184C>G",
"hgvs_p": null,
"transcript": "ENST00000383779.8",
"protein_id": "ENSP00000373289.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000383779.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "n.*1184C>G",
"hgvs_p": null,
"transcript": "ENST00000383779.8",
"protein_id": "ENSP00000373289.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000383779.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1960C>G",
"hgvs_p": "p.Arg654Gly",
"transcript": "ENST00000900336.1",
"protein_id": "ENSP00000570395.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 657,
"cds_start": 1960,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900336.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1915C>G",
"hgvs_p": "p.Arg639Gly",
"transcript": "ENST00000900333.1",
"protein_id": "ENSP00000570392.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 642,
"cds_start": 1915,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 2267,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900333.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1843C>G",
"hgvs_p": "p.Arg615Gly",
"transcript": "ENST00000947235.1",
"protein_id": "ENSP00000617294.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 618,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947235.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1783C>G",
"hgvs_p": "p.Arg595Gly",
"transcript": "ENST00000947232.1",
"protein_id": "ENSP00000617291.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 598,
"cds_start": 1783,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947232.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1681C>G",
"hgvs_p": "p.Arg561Gly",
"transcript": "ENST00000900337.1",
"protein_id": "ENSP00000570396.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 564,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900337.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1681C>G",
"hgvs_p": "p.Arg561Gly",
"transcript": "ENST00000936952.1",
"protein_id": "ENSP00000607011.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 564,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936952.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1645C>G",
"hgvs_p": "p.Arg549Gly",
"transcript": "ENST00000900332.1",
"protein_id": "ENSP00000570391.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 552,
"cds_start": 1645,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900332.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1642C>G",
"hgvs_p": "p.Arg548Gly",
"transcript": "NM_001284413.2",
"protein_id": "NP_001271342.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 551,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284413.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1642C>G",
"hgvs_p": "p.Arg548Gly",
"transcript": "ENST00000456194.6",
"protein_id": "ENSP00000390699.2",
"transcript_support_level": 2,
"aa_start": 548,
"aa_end": null,
"aa_length": 551,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456194.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1639C>G",
"hgvs_p": "p.Arg547Gly",
"transcript": "ENST00000900338.1",
"protein_id": "ENSP00000570397.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 550,
"cds_start": 1639,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900338.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1621C>G",
"hgvs_p": "p.Arg541Gly",
"transcript": "ENST00000900339.1",
"protein_id": "ENSP00000570398.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 544,
"cds_start": 1621,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900339.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1609C>G",
"hgvs_p": "p.Arg537Gly",
"transcript": "ENST00000936953.1",
"protein_id": "ENSP00000607012.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 540,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936953.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1609C>G",
"hgvs_p": "p.Arg537Gly",
"transcript": "ENST00000947231.1",
"protein_id": "ENSP00000617290.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 540,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947231.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1603C>G",
"hgvs_p": "p.Arg535Gly",
"transcript": "ENST00000936950.1",
"protein_id": "ENSP00000607009.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 538,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936950.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1597C>G",
"hgvs_p": "p.Arg533Gly",
"transcript": "ENST00000947234.1",
"protein_id": "ENSP00000617293.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 536,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947234.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1564C>G",
"hgvs_p": "p.Arg522Gly",
"transcript": "ENST00000900340.1",
"protein_id": "ENSP00000570399.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 525,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900340.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1543C>G",
"hgvs_p": "p.Arg515Gly",
"transcript": "NM_001284415.2",
"protein_id": "NP_001271344.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 518,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284415.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1543C>G",
"hgvs_p": "p.Arg515Gly",
"transcript": "ENST00000457447.6",
"protein_id": "ENSP00000404883.2",
"transcript_support_level": 2,
"aa_start": 515,
"aa_end": null,
"aa_length": 518,
"cds_start": 1543,
"cds_end": null,
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}
],
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}