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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: 14-61740787-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=61740787&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 61740787,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000337138.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Pro564Pro",
"transcript": "NM_001530.4",
"protein_id": "NP_001521.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 826,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": "ENST00000337138.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Pro564Pro",
"transcript": "ENST00000337138.9",
"protein_id": "ENSP00000338018.4",
"transcript_support_level": 1,
"aa_start": 564,
"aa_end": null,
"aa_length": 826,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": "NM_001530.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1764C>T",
"hgvs_p": "p.Pro588Pro",
"transcript": "ENST00000539097.2",
"protein_id": "ENSP00000437955.1",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 850,
"cds_start": 1764,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 3956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1695C>T",
"hgvs_p": "p.Pro565Pro",
"transcript": "ENST00000394997.5",
"protein_id": "ENSP00000378446.1",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 827,
"cds_start": 1695,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Pro564Pro",
"transcript": "ENST00000323441.10",
"protein_id": "ENSP00000323326.6",
"transcript_support_level": 1,
"aa_start": 564,
"aa_end": null,
"aa_length": 735,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 3555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "n.1993C>T",
"hgvs_p": null,
"transcript": "ENST00000557538.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1764C>T",
"hgvs_p": "p.Pro588Pro",
"transcript": "NM_001243084.2",
"protein_id": "NP_001230013.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 850,
"cds_start": 1764,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Pro564Pro",
"transcript": "NM_181054.3",
"protein_id": "NP_851397.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 735,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "n.600C>T",
"hgvs_p": null,
"transcript": "ENST00000547430.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "n.338C>T",
"hgvs_p": null,
"transcript": "ENST00000555014.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.279+10098G>A",
"hgvs_p": null,
"transcript": "ENST00000554254.3",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258964",
"gene_hgnc_id": null,
"hgvs_c": "n.148+6502C>T",
"hgvs_p": null,
"transcript": "ENST00000555937.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.215+10098G>A",
"hgvs_p": null,
"transcript": "ENST00000660325.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.36+10098G>A",
"hgvs_p": null,
"transcript": "ENST00000698324.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.214+10098G>A",
"hgvs_p": null,
"transcript": "ENST00000698325.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.239+10098G>A",
"hgvs_p": null,
"transcript": "ENST00000698327.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.157+10098G>A",
"hgvs_p": null,
"transcript": "ENST00000698331.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.95+10098G>A",
"hgvs_p": null,
"transcript": "ENST00000698332.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.158+10098G>A",
"hgvs_p": null,
"transcript": "ENST00000698333.1",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.172+10098G>A",
"hgvs_p": null,
"transcript": "ENST00000698334.1",
"protein_id": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.153+10098G>A",
"hgvs_p": null,
"transcript": "ENST00000715697.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.214+10098G>A",
"hgvs_p": null,
"transcript": "ENST00000733788.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.217+10098G>A",
"hgvs_p": null,
"transcript": "ENST00000733789.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
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{
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"BP7",
"BS2_Supporting"
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"verdict": "Likely_benign",
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{
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"verdict": "Likely_benign",
"transcript": "ENST00000554254.3",
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}