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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-150671571-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=150671571&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 150671571,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000370396.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1792delC",
"hgvs_p": "p.His598fs",
"transcript": "NM_000252.3",
"protein_id": "NP_000243.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 603,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "ENST00000370396.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1792delC",
"hgvs_p": "p.His598fs",
"transcript": "ENST00000370396.7",
"protein_id": "ENSP00000359423.3",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 603,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "NM_000252.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1837delC",
"hgvs_p": "p.His613fs",
"transcript": "ENST00000689314.1",
"protein_id": "ENSP00000510607.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 618,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1792delC",
"hgvs_p": "p.His598fs",
"transcript": "NM_001376908.1",
"protein_id": "NP_001363837.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 603,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1792delC",
"hgvs_p": "p.His598fs",
"transcript": "ENST00000685944.1",
"protein_id": "ENSP00000509266.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 603,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1792delC",
"hgvs_p": "p.His598fs",
"transcript": "ENST00000689694.1",
"protein_id": "ENSP00000508718.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 603,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1789delC",
"hgvs_p": "p.His597fs",
"transcript": "NM_001376906.1",
"protein_id": "NP_001363835.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 602,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1699delC",
"hgvs_p": "p.His567fs",
"transcript": "ENST00000691686.1",
"protein_id": "ENSP00000509784.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 572,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1681delC",
"hgvs_p": "p.His561fs",
"transcript": "NM_001376907.1",
"protein_id": "NP_001363836.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 566,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1603delC",
"hgvs_p": "p.His535fs",
"transcript": "ENST00000692852.1",
"protein_id": "ENSP00000510337.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 540,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1579delC",
"hgvs_p": "p.His527fs",
"transcript": "ENST00000692015.1",
"protein_id": "ENSP00000510634.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 532,
"cds_start": 1579,
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"cds_length": 1599,
"cdna_start": 1630,
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"cdna_length": 3179,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1447delC",
"hgvs_p": "p.His483fs",
"transcript": "ENST00000685439.1",
"protein_id": "ENSP00000508454.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 488,
"cds_start": 1447,
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"cds_length": 1467,
"cdna_start": 1573,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1447delC",
"hgvs_p": "p.His483fs",
"transcript": "ENST00000691232.1",
"protein_id": "ENSP00000509675.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
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"cds_start": 1447,
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"cdna_start": 1518,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 11,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "MTM1",
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"hgvs_c": "c.1201delC",
"hgvs_p": "p.His401fs",
"transcript": "ENST00000691851.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1048delC",
"hgvs_p": "p.His350fs",
"transcript": "ENST00000688403.1",
"protein_id": "ENSP00000508944.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 355,
"cds_start": 1048,
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"cdna_start": 1481,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1048delC",
"hgvs_p": "p.His350fs",
"transcript": "ENST00000690282.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 17,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1858delC",
"hgvs_p": "p.His620fs",
"transcript": "XM_047442132.1",
"protein_id": "XP_047298088.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 1858,
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"cdna_start": 2317,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1858delC",
"hgvs_p": "p.His620fs",
"transcript": "XM_047442133.1",
"protein_id": "XP_047298089.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 625,
"cds_start": 1858,
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"cdna_start": 2047,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1837delC",
"hgvs_p": "p.His613fs",
"transcript": "XM_011531171.2",
"protein_id": "XP_011529473.1",
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"aa_start": 613,
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1837delC",
"hgvs_p": "p.His613fs",
"transcript": "XM_011531172.2",
"protein_id": "XP_011529474.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 16,
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"intron_rank": null,
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"gene_symbol": "MTM1",
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"hgvs_c": "c.1837delC",
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"transcript": "XM_017029548.2",
"protein_id": "XP_016885037.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1834delC",
"hgvs_p": "p.His612fs",
"transcript": "XM_017029547.1",
"protein_id": "XP_016885036.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 617,
"cds_start": 1834,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1844,
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"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1813delC",
"hgvs_p": "p.His605fs",
"transcript": "XM_047442134.1",
"protein_id": "XP_047298090.1",
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}
],
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}