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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: X-150663523-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=150663523&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 150663523,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000370396.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Arg",
"transcript": "NM_000252.3",
"protein_id": "NP_000243.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 603,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "ENST00000370396.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Arg",
"transcript": "ENST00000370396.7",
"protein_id": "ENSP00000359423.3",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 603,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "NM_000252.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1603C>A",
"hgvs_p": "p.Arg535Arg",
"transcript": "ENST00000689314.1",
"protein_id": "ENSP00000510607.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 618,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Arg",
"transcript": "NM_001376908.1",
"protein_id": "NP_001363837.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 603,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Arg",
"transcript": "ENST00000685944.1",
"protein_id": "ENSP00000509266.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 603,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Arg",
"transcript": "ENST00000689694.1",
"protein_id": "ENSP00000508718.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 603,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Arg",
"transcript": "NM_001376906.1",
"protein_id": "NP_001363835.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 602,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1465C>A",
"hgvs_p": "p.Arg489Arg",
"transcript": "ENST00000691686.1",
"protein_id": "ENSP00000509784.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 572,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1447C>A",
"hgvs_p": "p.Arg483Arg",
"transcript": "NM_001376907.1",
"protein_id": "NP_001363836.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 566,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1369C>A",
"hgvs_p": "p.Arg457Arg",
"transcript": "ENST00000692852.1",
"protein_id": "ENSP00000510337.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 540,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1345C>A",
"hgvs_p": "p.Arg449Arg",
"transcript": "ENST00000692015.1",
"protein_id": "ENSP00000510634.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 532,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1213C>A",
"hgvs_p": "p.Arg405Arg",
"transcript": "ENST00000685439.1",
"protein_id": "ENSP00000508454.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 488,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1213C>A",
"hgvs_p": "p.Arg405Arg",
"transcript": "ENST00000691232.1",
"protein_id": "ENSP00000509675.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 488,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg",
"transcript": "ENST00000688403.1",
"protein_id": "ENSP00000508944.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 355,
"cds_start": 814,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Arg",
"transcript": "ENST00000690282.1",
"protein_id": "ENSP00000509809.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 355,
"cds_start": 814,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1624C>A",
"hgvs_p": "p.Arg542Arg",
"transcript": "XM_047442132.1",
"protein_id": "XP_047298088.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 625,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1624C>A",
"hgvs_p": "p.Arg542Arg",
"transcript": "XM_047442133.1",
"protein_id": "XP_047298089.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 625,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1813,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1603C>A",
"hgvs_p": "p.Arg535Arg",
"transcript": "XM_011531171.2",
"protein_id": "XP_011529473.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 618,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1603C>A",
"hgvs_p": "p.Arg535Arg",
"transcript": "XM_011531172.2",
"protein_id": "XP_011529474.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 618,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1603C>A",
"hgvs_p": "p.Arg535Arg",
"transcript": "XM_017029548.2",
"protein_id": "XP_016885037.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 618,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1603C>A",
"hgvs_p": "p.Arg535Arg",
"transcript": "XM_017029547.1",
"protein_id": "XP_016885036.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 617,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1579C>A",
"hgvs_p": "p.Arg527Arg",
"transcript": "XM_047442134.1",
"protein_id": "XP_047298090.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 610,
"cds_start": 1579,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1579C>A",
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Severe X-linked myotubular myopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}