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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: 2-200913309-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200913309&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200913309,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006190.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "NM_006190.5",
"protein_id": "NP_006181.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": "ENST00000234296.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006190.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "ENST00000234296.7",
"protein_id": "ENSP00000234296.2",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": "NM_006190.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234296.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1693A>C",
"hgvs_p": "p.Ile565Leu",
"transcript": "ENST00000938732.1",
"protein_id": "ENSP00000608791.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 597,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938732.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1678A>C",
"hgvs_p": "p.Ile560Leu",
"transcript": "ENST00000879137.1",
"protein_id": "ENSP00000549196.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 592,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879137.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "ENST00000879139.1",
"protein_id": "ENSP00000549198.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879139.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "ENST00000938735.1",
"protein_id": "ENSP00000608794.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938735.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "ENST00000938738.1",
"protein_id": "ENSP00000608797.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938738.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "ENST00000938739.1",
"protein_id": "ENSP00000608798.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1802,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938739.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1630A>C",
"hgvs_p": "p.Ile544Leu",
"transcript": "ENST00000938731.1",
"protein_id": "ENSP00000608790.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 576,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938731.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1627A>C",
"hgvs_p": "p.Ile543Leu",
"transcript": "ENST00000938734.1",
"protein_id": "ENSP00000608793.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 575,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938734.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1582A>C",
"hgvs_p": "p.Ile528Leu",
"transcript": "ENST00000938737.1",
"protein_id": "ENSP00000608796.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 560,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938737.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1567A>C",
"hgvs_p": "p.Ile523Leu",
"transcript": "ENST00000938730.1",
"protein_id": "ENSP00000608789.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 555,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938730.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1552A>C",
"hgvs_p": "p.Ile518Leu",
"transcript": "ENST00000938740.1",
"protein_id": "ENSP00000608799.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 550,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938740.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1543A>C",
"hgvs_p": "p.Ile515Leu",
"transcript": "ENST00000879138.1",
"protein_id": "ENSP00000549197.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 547,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879138.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1540A>C",
"hgvs_p": "p.Ile514Leu",
"transcript": "ENST00000879136.1",
"protein_id": "ENSP00000549195.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 546,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879136.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1534A>C",
"hgvs_p": "p.Ile512Leu",
"transcript": "ENST00000938733.1",
"protein_id": "ENSP00000608792.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 544,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938733.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1474A>C",
"hgvs_p": "p.Ile492Leu",
"transcript": "ENST00000879135.1",
"protein_id": "ENSP00000549194.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 524,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879135.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1468A>C",
"hgvs_p": "p.Ile490Leu",
"transcript": "ENST00000938736.1",
"protein_id": "ENSP00000608795.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 522,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938736.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1378A>C",
"hgvs_p": "p.Ile460Leu",
"transcript": "ENST00000879134.1",
"protein_id": "ENSP00000549193.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 492,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879134.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1693A>C",
"hgvs_p": "p.Ile565Leu",
"transcript": "XM_011511252.4",
"protein_id": "XP_011509554.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 597,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511252.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1693A>C",
"hgvs_p": "p.Ile565Leu",
"transcript": "XM_011511253.4",
"protein_id": "XP_011509555.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 597,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511253.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1693A>C",
"hgvs_p": "p.Ile565Leu",
"transcript": "XM_047444568.1",
"protein_id": "XP_047300524.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 597,
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{
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"verdict": "Uncertain_significance",
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"inheritance_mode": "",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}