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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: 6-85615064-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=85615064&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 85615064,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006372.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "NM_006372.5",
"protein_id": "NP_006363.4",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 623,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369622.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006372.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "ENST00000369622.8",
"protein_id": "ENSP00000358635.3",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 623,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006372.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369622.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "ENST00000355238.11",
"protein_id": "ENSP00000347380.6",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 562,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355238.11"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1270G>C",
"hgvs_p": "p.Gly424Arg",
"transcript": "ENST00000616122.5",
"protein_id": "ENSP00000484577.1",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 464,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616122.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271793",
"gene_hgnc_id": null,
"hgvs_c": "n.1564G>C",
"hgvs_p": null,
"transcript": "ENST00000682083.1",
"protein_id": "ENSP00000506859.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682083.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1729G>C",
"hgvs_p": "p.Gly577Arg",
"transcript": "ENST00000710383.1",
"protein_id": "ENSP00000518240.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 678,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710383.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "ENST00000676688.1",
"protein_id": "ENSP00000504706.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 623,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676688.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "ENST00000678355.1",
"protein_id": "ENSP00000503783.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 623,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678355.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "NM_001439158.1",
"protein_id": "NP_001426087.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 605,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439158.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "NM_001439161.1",
"protein_id": "NP_001426090.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 604,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439161.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "NM_001439162.1",
"protein_id": "NP_001426091.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 604,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439162.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1459G>C",
"hgvs_p": "p.Gly487Arg",
"transcript": "NM_001159675.2",
"protein_id": "NP_001153147.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 588,
"cds_start": 1459,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159675.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1459G>C",
"hgvs_p": "p.Gly487Arg",
"transcript": "ENST00000678930.1",
"protein_id": "ENSP00000504120.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 588,
"cds_start": 1459,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678930.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "NM_001159677.2",
"protein_id": "NP_001153149.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 562,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159677.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "ENST00000444272.2",
"protein_id": "ENSP00000397782.2",
"transcript_support_level": 3,
"aa_start": 522,
"aa_end": null,
"aa_length": 562,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444272.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "ENST00000676637.1",
"protein_id": "ENSP00000502974.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 562,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676637.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "ENST00000678528.1",
"protein_id": "ENSP00000503246.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 562,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678528.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "NM_001159676.2",
"protein_id": "NP_001153148.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 561,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159676.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "NM_001439160.1",
"protein_id": "NP_001426089.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 561,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439160.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "ENST00000677771.1",
"protein_id": "ENSP00000504816.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 561,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677771.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "ENST00000678878.1",
"protein_id": "ENSP00000504086.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 561,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678878.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Gly522Arg",
"transcript": "ENST00000676542.1",
"protein_id": "ENSP00000504277.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 545,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"verdict": "Uncertain_significance",
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{
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}