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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: 16-50784435-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=50784435&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 50784435,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015247.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Val645Ile",
"transcript": "NM_001378743.1",
"protein_id": "NP_001365672.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 956,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000427738.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378743.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Val645Ile",
"transcript": "ENST00000427738.8",
"protein_id": "ENSP00000392025.3",
"transcript_support_level": 5,
"aa_start": 645,
"aa_end": null,
"aa_length": 956,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378743.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427738.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "ENST00000398568.6",
"protein_id": "ENSP00000381574.2",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 953,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398568.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "ENST00000569418.5",
"protein_id": "ENSP00000457576.1",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 953,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569418.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "ENST00000566206.5",
"protein_id": "ENSP00000462134.1",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 910,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566206.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "n.2319G>A",
"hgvs_p": null,
"transcript": "ENST00000569891.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000569891.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "ENST00000872847.1",
"protein_id": "ENSP00000542906.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 967,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872847.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "ENST00000967680.1",
"protein_id": "ENSP00000637739.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 967,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967680.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Val632Ile",
"transcript": "ENST00000872838.1",
"protein_id": "ENSP00000542897.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 957,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872838.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Val645Ile",
"transcript": "NM_015247.3",
"protein_id": "NP_056062.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 956,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015247.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Val645Ile",
"transcript": "ENST00000311559.13",
"protein_id": "ENSP00000308928.9",
"transcript_support_level": 5,
"aa_start": 645,
"aa_end": null,
"aa_length": 956,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311559.13"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "NM_001042355.2",
"protein_id": "NP_001035814.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 953,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042355.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "NM_001042412.3",
"protein_id": "NP_001035877.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 953,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042412.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "NM_001378744.1",
"protein_id": "NP_001365673.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 953,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378744.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "NM_001378745.1",
"protein_id": "NP_001365674.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 953,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378745.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "NM_001378746.1",
"protein_id": "NP_001365675.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 953,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378746.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "NM_001378747.1",
"protein_id": "NP_001365676.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 953,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378747.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "NM_001378748.1",
"protein_id": "NP_001365677.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 953,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378748.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "NM_001378749.1",
"protein_id": "NP_001365678.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 953,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378749.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "NM_001378750.1",
"protein_id": "NP_001365679.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 953,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378750.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "ENST00000564326.5",
"protein_id": "ENSP00000454515.1",
"transcript_support_level": 5,
"aa_start": 642,
"aa_end": null,
"aa_length": 953,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564326.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Val642Ile",
"transcript": "ENST00000872836.1",
"protein_id": "ENSP00000542895.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 953,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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}
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"message": null
}