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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: 12-96001026-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=96001026&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 96001026,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000895.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1799C>G",
"hgvs_p": "p.Thr600Ser",
"transcript": "NM_000895.3",
"protein_id": "NP_000886.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 611,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228740.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000895.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1799C>G",
"hgvs_p": "p.Thr600Ser",
"transcript": "ENST00000228740.7",
"protein_id": "ENSP00000228740.2",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 611,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000895.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228740.7"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Thr576Ser",
"transcript": "ENST00000552789.5",
"protein_id": "ENSP00000449958.1",
"transcript_support_level": 1,
"aa_start": 576,
"aa_end": null,
"aa_length": 587,
"cds_start": 1727,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552789.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "n.1685C>G",
"hgvs_p": null,
"transcript": "ENST00000537111.6",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000537111.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1847C>G",
"hgvs_p": "p.Thr616Ser",
"transcript": "ENST00000852107.1",
"protein_id": "ENSP00000522166.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 627,
"cds_start": 1847,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852107.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1799C>G",
"hgvs_p": "p.Thr600Ser",
"transcript": "ENST00000920967.1",
"protein_id": "ENSP00000591026.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 611,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920967.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1793C>G",
"hgvs_p": "p.Thr598Ser",
"transcript": "ENST00000852106.1",
"protein_id": "ENSP00000522165.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 609,
"cds_start": 1793,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852106.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1787C>G",
"hgvs_p": "p.Thr596Ser",
"transcript": "ENST00000961644.1",
"protein_id": "ENSP00000631703.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 607,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961644.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1775C>G",
"hgvs_p": "p.Thr592Ser",
"transcript": "ENST00000920968.1",
"protein_id": "ENSP00000591027.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 603,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920968.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1766C>G",
"hgvs_p": "p.Thr589Ser",
"transcript": "ENST00000852105.1",
"protein_id": "ENSP00000522164.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 600,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852105.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1760C>G",
"hgvs_p": "p.Thr587Ser",
"transcript": "ENST00000961646.1",
"protein_id": "ENSP00000631705.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 598,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961646.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1730C>G",
"hgvs_p": "p.Thr577Ser",
"transcript": "ENST00000920969.1",
"protein_id": "ENSP00000591028.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 588,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920969.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1727C>G",
"hgvs_p": "p.Thr576Ser",
"transcript": "NM_001256643.1",
"protein_id": "NP_001243572.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 587,
"cds_start": 1727,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256643.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1703C>G",
"hgvs_p": "p.Thr568Ser",
"transcript": "NM_001414263.1",
"protein_id": "NP_001401192.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 579,
"cds_start": 1703,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414263.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1703C>G",
"hgvs_p": "p.Thr568Ser",
"transcript": "ENST00000961647.1",
"protein_id": "ENSP00000631706.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 579,
"cds_start": 1703,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961647.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1694C>G",
"hgvs_p": "p.Thr565Ser",
"transcript": "NM_001414264.1",
"protein_id": "NP_001401193.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 576,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414264.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1694C>G",
"hgvs_p": "p.Thr565Ser",
"transcript": "ENST00000961645.1",
"protein_id": "ENSP00000631704.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 576,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961645.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1652C>G",
"hgvs_p": "p.Thr551Ser",
"transcript": "ENST00000852108.1",
"protein_id": "ENSP00000522167.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 562,
"cds_start": 1652,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852108.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1616C>G",
"hgvs_p": "p.Thr539Ser",
"transcript": "ENST00000852104.1",
"protein_id": "ENSP00000522163.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 550,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852104.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.1163C>G",
"hgvs_p": "p.Thr388Ser",
"transcript": "NM_001414266.1",
"protein_id": "NP_001401195.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 399,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414266.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.*117C>G",
"hgvs_p": null,
"transcript": "NM_001414265.1",
"protein_id": "NP_001401194.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": null,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414265.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTA4H",
"gene_hgnc_id": 6710,
"hgvs_c": "c.*117C>G",
"hgvs_p": null,
"transcript": "NM_001256644.1",
"protein_id": "NP_001243573.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": null,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"custom_annotations": null
}
],
"message": null
}