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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: 11-44232402-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=44232402&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 44232402,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000401.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "NM_207122.2",
"protein_id": "NP_997005.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000533608.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207122.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "ENST00000533608.7",
"protein_id": "ENSP00000431173.2",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207122.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533608.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.His581Arg",
"transcript": "ENST00000358681.8",
"protein_id": "ENSP00000351509.4",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 728,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358681.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "ENST00000343631.4",
"protein_id": "ENSP00000342656.3",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343631.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "ENST00000395673.8",
"protein_id": "ENSP00000379032.4",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395673.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.His604Arg",
"transcript": "NM_000401.3",
"protein_id": "NP_000392.3",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 751,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000401.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1742A>G",
"hgvs_p": "p.His581Arg",
"transcript": "NM_001178083.3",
"protein_id": "NP_001171554.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 728,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178083.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "NM_001389628.1",
"protein_id": "NP_001376557.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389628.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "NM_001389630.1",
"protein_id": "NP_001376559.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389630.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "ENST00000683000.1",
"protein_id": "ENSP00000508361.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683000.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "ENST00000860016.1",
"protein_id": "ENSP00000530075.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860016.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "ENST00000860017.1",
"protein_id": "ENSP00000530076.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860017.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "ENST00000860018.1",
"protein_id": "ENSP00000530077.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860018.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "ENST00000860019.1",
"protein_id": "ENSP00000530078.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860019.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "ENST00000860020.1",
"protein_id": "ENSP00000530079.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860020.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "ENST00000860021.1",
"protein_id": "ENSP00000530080.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860021.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "ENST00000958404.1",
"protein_id": "ENSP00000628463.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958404.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.His571Arg",
"transcript": "ENST00000958405.1",
"protein_id": "ENSP00000628464.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 718,
"cds_start": 1712,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958405.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.His493Arg",
"transcript": "ENST00000682359.1",
"protein_id": "ENSP00000508226.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 640,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682359.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1376A>G",
"hgvs_p": "p.His459Arg",
"transcript": "ENST00000684533.1",
"protein_id": "ENSP00000507915.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 606,
"cds_start": 1376,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684533.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.86A>G",
"hgvs_p": "p.His29Arg",
"transcript": "ENST00000682711.1",
"protein_id": "ENSP00000506803.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 176,
"cds_start": 86,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682711.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1850A>G",
"hgvs_p": "p.His617Arg",
"transcript": "XM_011519950.2",
"protein_id": "XP_011518252.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 764,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519950.2"
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": " multiple, type 2,Exostoses,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1 O:1",
"phenotype_combined": "not specified|Exostoses, multiple, type 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}