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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: 8-73027927-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=73027927&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 73027927,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000276603.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.887+875A>G",
"hgvs_p": null,
"transcript": "NM_017489.3",
"protein_id": "NP_059523.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": "ENST00000276603.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.887+875A>G",
"hgvs_p": null,
"transcript": "ENST00000276603.10",
"protein_id": "ENSP00000276603.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": "NM_017489.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.887+875A>G",
"hgvs_p": null,
"transcript": "ENST00000276602.10",
"protein_id": "ENSP00000276602.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": -4,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3268,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "n.1781A>G",
"hgvs_p": null,
"transcript": "ENST00000522018.2",
"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": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.887+875A>G",
"hgvs_p": null,
"transcript": "NM_001413364.1",
"protein_id": "NP_001400293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": -4,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.887+875A>G",
"hgvs_p": null,
"transcript": "NM_001410928.1",
"protein_id": "NP_001397857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": -4,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.887+875A>G",
"hgvs_p": null,
"transcript": "ENST00000678860.1",
"protein_id": "ENSP00000503453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": -4,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.887+875A>G",
"hgvs_p": null,
"transcript": "NM_003218.4",
"protein_id": "NP_003209.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": -4,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.791+875A>G",
"hgvs_p": null,
"transcript": "NM_001413370.1",
"protein_id": "NP_001400299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.887+875A>G",
"hgvs_p": null,
"transcript": "NM_001413371.1",
"protein_id": "NP_001400300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.887+875A>G",
"hgvs_p": null,
"transcript": "ENST00000679115.1",
"protein_id": "ENSP00000504760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.737+875A>G",
"hgvs_p": null,
"transcript": "ENST00000678518.1",
"protein_id": "ENSP00000504470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": -4,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
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"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.791+875A>G",
"hgvs_p": null,
"transcript": "NM_001413372.1",
"protein_id": "NP_001400301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 387,
"cds_start": -4,
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"cds_length": 1164,
"cdna_start": null,
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"cdna_length": 3173,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.887+875A>G",
"hgvs_p": null,
"transcript": "NM_001413373.1",
"protein_id": "NP_001400302.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.887+875A>G",
"hgvs_p": null,
"transcript": "ENST00000517390.2",
"protein_id": "ENSP00000430121.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
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"cds_length": 1110,
"cdna_start": null,
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"cdna_length": 2704,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.575+875A>G",
"hgvs_p": null,
"transcript": "NM_001413365.1",
"protein_id": "NP_001400294.1",
"transcript_support_level": null,
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"aa_length": 365,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.887+875A>G",
"hgvs_p": null,
"transcript": "NM_001413374.1",
"protein_id": "NP_001400303.1",
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.575+875A>G",
"hgvs_p": null,
"transcript": "NM_001413366.1",
"protein_id": "NP_001400295.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 345,
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.575+875A>G",
"hgvs_p": null,
"transcript": "NM_001413367.1",
"protein_id": "NP_001400296.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.774+2956A>G",
"hgvs_p": null,
"transcript": "NM_001413369.1",
"protein_id": "NP_001400298.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.575+875A>G",
"hgvs_p": null,
"transcript": "NM_001413368.1",
"protein_id": "NP_001400297.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "n.887+875A>G",
"hgvs_p": null,
"transcript": "ENST00000676483.1",
"protein_id": "ENSP00000504467.1",
"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": 3429,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "n.910+875A>G",
"hgvs_p": null,
"transcript": "ENST00000677031.1",
"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,
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"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
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"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}