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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: 9-27212710-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=27212710&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 27212710,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000459.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2690A>G",
"hgvs_p": "p.Tyr897Cys",
"transcript": "NM_000459.5",
"protein_id": "NP_000450.3",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380036.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000459.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2690A>G",
"hgvs_p": "p.Tyr897Cys",
"transcript": "ENST00000380036.10",
"protein_id": "ENSP00000369375.4",
"transcript_support_level": 1,
"aa_start": 897,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000459.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380036.10"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2729A>G",
"hgvs_p": "p.Tyr910Cys",
"transcript": "ENST00000923267.1",
"protein_id": "ENSP00000593326.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2729,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923267.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Tyr896Cys",
"transcript": "NM_001375475.1",
"protein_id": "NP_001362404.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375475.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Tyr896Cys",
"transcript": "ENST00000856712.1",
"protein_id": "ENSP00000526771.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856712.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Tyr896Cys",
"transcript": "ENST00000944998.1",
"protein_id": "ENSP00000615057.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1122,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944998.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2675A>G",
"hgvs_p": "p.Tyr892Cys",
"transcript": "ENST00000856727.1",
"protein_id": "ENSP00000526786.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2675,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856727.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2672A>G",
"hgvs_p": "p.Tyr891Cys",
"transcript": "ENST00000856720.1",
"protein_id": "ENSP00000526779.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856720.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2579A>G",
"hgvs_p": "p.Tyr860Cys",
"transcript": "ENST00000944996.1",
"protein_id": "ENSP00000615055.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2579,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944996.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Tyr854Cys",
"transcript": "NM_001290077.2",
"protein_id": "NP_001277006.2",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2561,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290077.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Tyr854Cys",
"transcript": "ENST00000406359.8",
"protein_id": "ENSP00000383977.4",
"transcript_support_level": 2,
"aa_start": 854,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2561,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406359.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Tyr854Cys",
"transcript": "ENST00000944990.1",
"protein_id": "ENSP00000615049.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2561,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944990.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2558A>G",
"hgvs_p": "p.Tyr853Cys",
"transcript": "NM_001375476.1",
"protein_id": "NP_001362405.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2558,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375476.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2558A>G",
"hgvs_p": "p.Tyr853Cys",
"transcript": "ENST00000856713.1",
"protein_id": "ENSP00000526772.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2558,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856713.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2558A>G",
"hgvs_p": "p.Tyr853Cys",
"transcript": "ENST00000856716.1",
"protein_id": "ENSP00000526775.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2558,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856716.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2690A>G",
"hgvs_p": "p.Tyr897Cys",
"transcript": "ENST00000856717.1",
"protein_id": "ENSP00000526776.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856717.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Tyr851Cys",
"transcript": "ENST00000944997.1",
"protein_id": "ENSP00000615056.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2552,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944997.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Tyr896Cys",
"transcript": "ENST00000856715.1",
"protein_id": "ENSP00000526774.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856715.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2537A>G",
"hgvs_p": "p.Tyr846Cys",
"transcript": "ENST00000856723.1",
"protein_id": "ENSP00000526782.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2537,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856723.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2675A>G",
"hgvs_p": "p.Tyr892Cys",
"transcript": "ENST00000944994.1",
"protein_id": "ENSP00000615053.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2675,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944994.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2525A>G",
"hgvs_p": "p.Tyr842Cys",
"transcript": "ENST00000923266.1",
"protein_id": "ENSP00000593325.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2525,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923266.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEK",
"gene_hgnc_id": 11724,
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Tyr854Cys",
"transcript": "ENST00000856722.1",
"protein_id": "ENSP00000526781.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2561,
"cds_end": null,
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Multiple cutaneous and mucosal venous malformations|not provided|Abnormal cardiovascular system morphology|Ventricular septal defect;Blue rubber bleb nevus",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}