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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: 16-50796443-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=50796443&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 50796443,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000427738.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2806C>T",
"hgvs_p": "p.Arg936*",
"transcript": "NM_001378743.1",
"protein_id": "NP_001365672.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 956,
"cds_start": 2806,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 3048,
"cdna_end": null,
"cdna_length": 8540,
"mane_select": "ENST00000427738.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2806C>T",
"hgvs_p": "p.Arg936*",
"transcript": "ENST00000427738.8",
"protein_id": "ENSP00000392025.3",
"transcript_support_level": 5,
"aa_start": 936,
"aa_end": null,
"aa_length": 956,
"cds_start": 2806,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 3048,
"cdna_end": null,
"cdna_length": 8540,
"mane_select": "NM_001378743.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933*",
"transcript": "ENST00000398568.6",
"protein_id": "ENSP00000381574.2",
"transcript_support_level": 1,
"aa_start": 933,
"aa_end": null,
"aa_length": 953,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3097,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933*",
"transcript": "ENST00000569418.5",
"protein_id": "ENSP00000457576.1",
"transcript_support_level": 1,
"aa_start": 933,
"aa_end": null,
"aa_length": 953,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3075,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2806C>T",
"hgvs_p": "p.Arg936*",
"transcript": "NM_015247.3",
"protein_id": "NP_056062.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 956,
"cds_start": 2806,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 3185,
"cdna_end": null,
"cdna_length": 8677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2806C>T",
"hgvs_p": "p.Arg936*",
"transcript": "ENST00000311559.13",
"protein_id": "ENSP00000308928.9",
"transcript_support_level": 5,
"aa_start": 936,
"aa_end": null,
"aa_length": 956,
"cds_start": 2806,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 3197,
"cdna_end": null,
"cdna_length": 5371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933*",
"transcript": "NM_001042355.2",
"protein_id": "NP_001035814.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 953,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3039,
"cdna_end": null,
"cdna_length": 8531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933*",
"transcript": "NM_001042412.3",
"protein_id": "NP_001035877.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 953,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3061,
"cdna_end": null,
"cdna_length": 8553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933*",
"transcript": "NM_001378744.1",
"protein_id": "NP_001365673.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 953,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3066,
"cdna_end": null,
"cdna_length": 8558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933*",
"transcript": "NM_001378745.1",
"protein_id": "NP_001365674.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 953,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 8668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933*",
"transcript": "NM_001378746.1",
"protein_id": "NP_001365675.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 953,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3198,
"cdna_end": null,
"cdna_length": 8690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933*",
"transcript": "NM_001378747.1",
"protein_id": "NP_001365676.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 953,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2988,
"cdna_end": null,
"cdna_length": 8480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933*",
"transcript": "NM_001378748.1",
"protein_id": "NP_001365677.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 953,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3248,
"cdna_end": null,
"cdna_length": 8740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933*",
"transcript": "NM_001378749.1",
"protein_id": "NP_001365678.1",
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"aa_start": 933,
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"cds_start": 2797,
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"cdna_start": 2966,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933*",
"transcript": "NM_001378750.1",
"protein_id": "NP_001365679.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 953,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3385,
"cdna_end": null,
"cdna_length": 8877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933*",
"transcript": "ENST00000564326.5",
"protein_id": "ENSP00000454515.1",
"transcript_support_level": 5,
"aa_start": 933,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2767C>T",
"hgvs_p": "p.Arg923*",
"transcript": "NM_001378751.1",
"protein_id": "NP_001365680.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 943,
"cds_start": 2767,
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"cds_length": 2832,
"cdna_start": 3009,
"cdna_end": null,
"cdna_length": 8501,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2767C>T",
"hgvs_p": "p.Arg923*",
"transcript": "NM_001378752.1",
"protein_id": "NP_001365681.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 943,
"cds_start": 2767,
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"cdna_start": 3031,
"cdna_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2767C>T",
"hgvs_p": "p.Arg923*",
"transcript": "NM_001378753.1",
"protein_id": "NP_001365682.1",
"transcript_support_level": null,
"aa_start": 923,
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"aa_length": 943,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2251C>T",
"hgvs_p": "p.Arg751*",
"transcript": "ENST00000568704.2",
"protein_id": "ENSP00000456488.2",
"transcript_support_level": 5,
"aa_start": 751,
"aa_end": null,
"aa_length": 771,
"cds_start": 2251,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2131C>T",
"hgvs_p": "p.Arg711*",
"transcript": "NM_001378754.1",
"protein_id": "NP_001365683.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 731,
"cds_start": 2131,
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"cds_length": 2196,
"cdna_start": 3035,
"cdna_end": null,
"cdna_length": 8527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
"hgvs_c": "c.2131C>T",
"hgvs_p": "p.Arg711*",
"transcript": "NM_001378755.1",
"protein_id": "NP_001365684.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 731,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 3244,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYLD",
"gene_hgnc_id": 2584,
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{
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"clinvar_disease": " 1, multiple familial,Brooke-Spiegler syndrome,Familial cylindromatosis,Familial multiple trichoepitheliomata,Frontotemporal dementia and/or amyotrophic lateral sclerosis 8,Trichoepithelioma,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Familial cylindromatosis|Familial multiple trichoepitheliomata|Brooke-Spiegler syndrome|Familial cylindromatosis;Brooke-Spiegler syndrome;Trichoepithelioma, multiple familial, 1;Frontotemporal dementia and/or amyotrophic lateral sclerosis 8|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}