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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-150671485-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=150671485&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 150671485,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000370396.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1702A>G",
"hgvs_p": "p.Ile568Val",
"transcript": "NM_000252.3",
"protein_id": "NP_000243.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 603,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "ENST00000370396.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1702A>G",
"hgvs_p": "p.Ile568Val",
"transcript": "ENST00000370396.7",
"protein_id": "ENSP00000359423.3",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 603,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "NM_000252.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1747A>G",
"hgvs_p": "p.Ile583Val",
"transcript": "ENST00000689314.1",
"protein_id": "ENSP00000510607.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 618,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1702A>G",
"hgvs_p": "p.Ile568Val",
"transcript": "NM_001376908.1",
"protein_id": "NP_001363837.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 603,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1702A>G",
"hgvs_p": "p.Ile568Val",
"transcript": "ENST00000685944.1",
"protein_id": "ENSP00000509266.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 603,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1702A>G",
"hgvs_p": "p.Ile568Val",
"transcript": "ENST00000689694.1",
"protein_id": "ENSP00000508718.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 603,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1699A>G",
"hgvs_p": "p.Ile567Val",
"transcript": "NM_001376906.1",
"protein_id": "NP_001363835.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 602,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1609A>G",
"hgvs_p": "p.Ile537Val",
"transcript": "ENST00000691686.1",
"protein_id": "ENSP00000509784.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 572,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1591A>G",
"hgvs_p": "p.Ile531Val",
"transcript": "NM_001376907.1",
"protein_id": "NP_001363836.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 566,
"cds_start": 1591,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1513A>G",
"hgvs_p": "p.Ile505Val",
"transcript": "ENST00000692852.1",
"protein_id": "ENSP00000510337.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 540,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1489A>G",
"hgvs_p": "p.Ile497Val",
"transcript": "ENST00000692015.1",
"protein_id": "ENSP00000510634.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 532,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Ile453Val",
"transcript": "ENST00000685439.1",
"protein_id": "ENSP00000508454.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 488,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Ile453Val",
"transcript": "ENST00000691232.1",
"protein_id": "ENSP00000509675.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 488,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1111A>G",
"hgvs_p": "p.Ile371Val",
"transcript": "ENST00000691851.1",
"protein_id": "ENSP00000510106.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 406,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Ile320Val",
"transcript": "ENST00000688403.1",
"protein_id": "ENSP00000508944.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 355,
"cds_start": 958,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Ile320Val",
"transcript": "ENST00000690282.1",
"protein_id": "ENSP00000509809.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 355,
"cds_start": 958,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1768A>G",
"hgvs_p": "p.Ile590Val",
"transcript": "XM_047442132.1",
"protein_id": "XP_047298088.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 625,
"cds_start": 1768,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1768A>G",
"hgvs_p": "p.Ile590Val",
"transcript": "XM_047442133.1",
"protein_id": "XP_047298089.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 625,
"cds_start": 1768,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1747A>G",
"hgvs_p": "p.Ile583Val",
"transcript": "XM_011531171.2",
"protein_id": "XP_011529473.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 618,
"cds_start": 1747,
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"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1747A>G",
"hgvs_p": "p.Ile583Val",
"transcript": "XM_011531172.2",
"protein_id": "XP_011529474.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 618,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1747A>G",
"hgvs_p": "p.Ile583Val",
"transcript": "XM_017029548.2",
"protein_id": "XP_016885037.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 618,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1744A>G",
"hgvs_p": "p.Ile582Val",
"transcript": "XM_017029547.1",
"protein_id": "XP_016885036.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 617,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
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"clinvar_disease": "Centronuclear myopathy,Severe X-linked myotubular myopathy,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|Severe X-linked myotubular myopathy|Centronuclear myopathy",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}