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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-150598593-CAAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=150598593&ref=CAAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 150598593,
"ref": "CAAA",
"alt": "C",
"effect": "conservative_inframe_deletion,splice_region_variant",
"transcript": "ENST00000370396.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "NM_000252.3",
"protein_id": "NP_000243.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 603,
"cds_start": 139,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "ENST00000370396.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "ENST00000370396.7",
"protein_id": "ENSP00000359423.3",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 603,
"cds_start": 139,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "NM_000252.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "ENST00000689314.1",
"protein_id": "ENSP00000510607.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 618,
"cds_start": 139,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "NM_001376908.1",
"protein_id": "NP_001363837.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 603,
"cds_start": 139,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "ENST00000685944.1",
"protein_id": "ENSP00000509266.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 603,
"cds_start": 139,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "ENST00000689694.1",
"protein_id": "ENSP00000508718.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 603,
"cds_start": 139,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "NM_001376906.1",
"protein_id": "NP_001363835.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 602,
"cds_start": 139,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "ENST00000691686.1",
"protein_id": "ENSP00000509784.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 572,
"cds_start": 139,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "NM_001376907.1",
"protein_id": "NP_001363836.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 566,
"cds_start": 139,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "ENST00000692852.1",
"protein_id": "ENSP00000510337.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 540,
"cds_start": 139,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "ENST00000692015.1",
"protein_id": "ENSP00000510634.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 532,
"cds_start": 139,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "ENST00000691851.1",
"protein_id": "ENSP00000510106.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 406,
"cds_start": 139,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.160_162delAAA",
"hgvs_p": "p.Lys54del",
"transcript": "XM_047442132.1",
"protein_id": "XP_047298088.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 625,
"cds_start": 160,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.160_162delAAA",
"hgvs_p": "p.Lys54del",
"transcript": "XM_047442133.1",
"protein_id": "XP_047298089.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 625,
"cds_start": 160,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "XM_011531171.2",
"protein_id": "XP_011529473.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 618,
"cds_start": 139,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "XM_011531172.2",
"protein_id": "XP_011529474.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 618,
"cds_start": 139,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "XM_017029548.2",
"protein_id": "XP_016885037.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 618,
"cds_start": 139,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "XM_017029547.1",
"protein_id": "XP_016885036.1",
"transcript_support_level": null,
"aa_start": 47,
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"aa_length": 617,
"cds_start": 139,
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"cdna_start": 149,
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"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.160_162delAAA",
"hgvs_p": "p.Lys54del",
"transcript": "XM_047442134.1",
"protein_id": "XP_047298090.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 610,
"cds_start": 160,
"cds_end": null,
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"cdna_start": 349,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.160_162delAAA",
"hgvs_p": "p.Lys54del",
"transcript": "XM_047442135.1",
"protein_id": "XP_047298091.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 610,
"cds_start": 160,
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"cdna_start": 707,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.160_162delAAA",
"hgvs_p": "p.Lys54del",
"transcript": "XM_047442136.1",
"protein_id": "XP_047298092.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 609,
"cds_start": 160,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.139_141delAAA",
"hgvs_p": "p.Lys47del",
"transcript": "XM_047442137.1",
"protein_id": "XP_047298093.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Severe X-linked myotubular myopathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}