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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: 8-67154055-T-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=67154055&ref=T&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"exon_region"
],
"gene_symbol": "CSPP1",
"hgnc_id": 26193,
"hgvs_c": "c.",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000262210.11",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1226,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4859,
"cdna_start": null,
"cds_end": null,
"cds_length": 3681,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000678616.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382391.1",
"protein_coding": true,
"protein_id": "ENSP00000504733.1",
"strand": true,
"transcript": "ENST00000678616.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4476,
"cdna_start": null,
"cds_end": null,
"cds_length": 3747,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000262210.11",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262210.6",
"strand": true,
"transcript": "ENST00000262210.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 876,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3715,
"cdna_start": null,
"cds_end": null,
"cds_length": 2631,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 26,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000519668.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430092.1",
"strand": true,
"transcript": "ENST00000519668.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5011,
"cdna_start": null,
"cds_end": null,
"cds_length": 3789,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000676605.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503605.1",
"strand": true,
"transcript": "ENST00000676605.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5011,
"cdna_start": null,
"cds_end": null,
"cds_length": 3789,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000678542.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503878.1",
"strand": true,
"transcript": "ENST00000678542.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1256,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3802,
"cdna_start": null,
"cds_end": null,
"cds_length": 3771,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000674993.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502454.1",
"strand": true,
"transcript": "ENST00000674993.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1221,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4882,
"cdna_start": null,
"cds_end": null,
"cds_length": 3666,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000676317.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502047.1",
"strand": true,
"transcript": "ENST00000676317.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1219,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4240,
"cdna_start": null,
"cds_end": null,
"cds_length": 3660,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000676847.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503336.1",
"strand": true,
"transcript": "ENST00000676847.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1215,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4864,
"cdna_start": null,
"cds_end": null,
"cds_length": 3648,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000677592.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504516.1",
"strand": true,
"transcript": "ENST00000677592.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1212,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4176,
"cdna_start": null,
"cds_end": null,
"cds_length": 3639,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000676113.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501645.1",
"strand": true,
"transcript": "ENST00000676113.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1212,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4853,
"cdna_start": null,
"cds_end": null,
"cds_length": 3639,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000853676.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523735.1",
"strand": true,
"transcript": "ENST00000853676.1",
"transcript_support_level": null
},
{
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"aa_length": 1199,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4208,
"cdna_start": null,
"cds_end": null,
"cds_length": 3600,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000675955.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501676.1",
"strand": true,
"transcript": "ENST00000675955.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4592,
"cdna_start": null,
"cds_end": null,
"cds_length": 3567,
"cds_start": null,
"consequences": [
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],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000676882.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
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"protein_coding": true,
"protein_id": "ENSP00000504342.1",
"strand": true,
"transcript": "ENST00000676882.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4121,
"cdna_start": null,
"cds_end": null,
"cds_length": 3558,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000678645.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504031.1",
"strand": true,
"transcript": "ENST00000678645.1",
"transcript_support_level": null
},
{
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"aa_length": 1185,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4632,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000914794.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000584853.1",
"strand": true,
"transcript": "ENST00000914794.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000914795.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584854.1",
"strand": true,
"transcript": "ENST00000914795.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4382,
"cdna_start": null,
"cds_end": null,
"cds_length": 3540,
"cds_start": null,
"consequences": [
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],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000953972.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624031.1",
"strand": true,
"transcript": "ENST00000953972.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000675869.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000502747.1",
"strand": true,
"transcript": "ENST00000675869.1",
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},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000914799.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000584858.1",
"strand": true,
"transcript": "ENST00000914799.1",
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},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000676471.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000503711.1",
"strand": true,
"transcript": "ENST00000676471.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": null,
"cds_end": null,
"cds_length": 3405,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000675306.2",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502421.1",
"strand": true,
"transcript": "ENST00000675306.2",
"transcript_support_level": null
},
{
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"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4215,
"cdna_start": null,
"cds_end": null,
"cds_length": 3405,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000953971.1",
"gene_hgnc_id": 26193,
"gene_symbol": "CSPP1",
"hgvs_c": "c.",
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}