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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: 16-2086252-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2086252&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TSC2",
"hgnc_id": 12363,
"hgvs_c": "c.4722C>G",
"hgvs_p": "p.Phe1574Leu",
"inheritance_mode": "AD",
"pathogenic_score": 8,
"score": 7,
"transcript": "NM_000548.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,BP6",
"acmg_score": 7,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.9861,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.49,
"chr": "16",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Tuberous sclerosis 2",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.98958420753479,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1807,
"aa_ref": "F",
"aa_start": 1574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6415,
"cdna_start": 4832,
"cds_end": null,
"cds_length": 5424,
"cds_start": 4722,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_000548.5",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4722C>G",
"hgvs_p": "p.Phe1574Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000219476.9",
"protein_coding": true,
"protein_id": "NP_000539.2",
"strand": true,
"transcript": "NM_000548.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1807,
"aa_ref": "F",
"aa_start": 1574,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6415,
"cdna_start": 4832,
"cds_end": null,
"cds_length": 5424,
"cds_start": 4722,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000219476.9",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4722C>G",
"hgvs_p": "p.Phe1574Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000548.5",
"protein_coding": true,
"protein_id": "ENSP00000219476.3",
"strand": true,
"transcript": "ENST00000219476.9",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1784,
"aa_ref": "F",
"aa_start": 1551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 4728,
"cds_end": null,
"cds_length": 5355,
"cds_start": 4653,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000350773.9",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4653C>G",
"hgvs_p": "p.Phe1551Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344383.4",
"strand": true,
"transcript": "ENST00000350773.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1740,
"aa_ref": "F",
"aa_start": 1507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5437,
"cdna_start": 4627,
"cds_end": null,
"cds_length": 5223,
"cds_start": 4521,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000401874.7",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4521C>G",
"hgvs_p": "p.Phe1507Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384468.2",
"strand": true,
"transcript": "ENST00000401874.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000439117.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*3889C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000406980.2",
"strand": true,
"transcript": "ENST00000439117.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000439117.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*3889C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000406980.2",
"strand": true,
"transcript": "ENST00000439117.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1837,
"aa_ref": "F",
"aa_start": 1604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6505,
"cdna_start": 4922,
"cds_end": null,
"cds_length": 5514,
"cds_start": 4812,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000645186.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4812C>G",
"hgvs_p": "p.Phe1604Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495110.2",
"strand": true,
"transcript": "ENST00000645186.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "F",
"aa_start": 1573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6412,
"cdna_start": 4829,
"cds_end": null,
"cds_length": 5421,
"cds_start": 4719,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001406663.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4719C>G",
"hgvs_p": "p.Phe1573Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393592.1",
"strand": true,
"transcript": "NM_001406663.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "F",
"aa_start": 1573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5574,
"cdna_start": 4790,
"cds_end": null,
"cds_length": 5421,
"cds_start": 4719,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000642365.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4719C>G",
"hgvs_p": "p.Phe1573Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495459.2",
"strand": true,
"transcript": "ENST00000642365.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1805,
"aa_ref": "F",
"aa_start": 1572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5614,
"cdna_start": 4802,
"cds_end": null,
"cds_length": 5418,
"cds_start": 4716,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000646388.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4716C>G",
"hgvs_p": "p.Phe1572Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495921.1",
"strand": true,
"transcript": "ENST00000646388.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1799,
"aa_ref": "F",
"aa_start": 1566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5623,
"cdna_start": 4811,
"cds_end": null,
"cds_length": 5400,
"cds_start": 4698,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000941763.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4698C>G",
"hgvs_p": "p.Phe1566Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611822.1",
"strand": true,
"transcript": "ENST00000941763.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "F",
"aa_start": 1563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5594,
"cdna_start": 4799,
"cds_end": null,
"cds_length": 5391,
"cds_start": 4689,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000903285.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4689C>G",
"hgvs_p": "p.Phe1563Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573344.1",
"strand": true,
"transcript": "ENST00000903285.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1784,
"aa_ref": "F",
"aa_start": 1551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6346,
"cdna_start": 4763,
"cds_end": null,
"cds_length": 5355,
"cds_start": 4653,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001114382.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4653C>G",
"hgvs_p": "p.Phe1551Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001107854.1",
"strand": true,
"transcript": "NM_001114382.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "F",
"aa_start": 1550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6343,
"cdna_start": 4760,
"cds_end": null,
"cds_length": 5352,
"cds_start": 4650,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001406664.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4650C>G",
"hgvs_p": "p.Phe1550Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393593.1",
"strand": true,
"transcript": "NM_001406664.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "F",
"aa_start": 1549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6344,
"cdna_start": 4765,
"cds_end": null,
"cds_length": 5349,
"cds_start": 4647,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000643946.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4647C>G",
"hgvs_p": "p.Phe1549Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495927.1",
"strand": true,
"transcript": "ENST00000643946.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1781,
"aa_ref": "F",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 4754,
"cds_end": null,
"cds_length": 5346,
"cds_start": 4644,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001406665.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4644C>G",
"hgvs_p": "p.Phe1548Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393594.1",
"strand": true,
"transcript": "NM_001406665.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1781,
"aa_ref": "F",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5528,
"cdna_start": 4721,
"cds_end": null,
"cds_length": 5346,
"cds_start": 4644,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000941766.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4644C>G",
"hgvs_p": "p.Phe1548Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611825.1",
"strand": true,
"transcript": "ENST00000941766.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1780,
"aa_ref": "F",
"aa_start": 1547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5445,
"cdna_start": 4643,
"cds_end": null,
"cds_length": 5343,
"cds_start": 4641,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000644399.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4641C>G",
"hgvs_p": "p.Phe1547Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493990.1",
"strand": true,
"transcript": "ENST00000644399.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1780,
"aa_ref": "F",
"aa_start": 1547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 4728,
"cds_end": null,
"cds_length": 5343,
"cds_start": 4641,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000903287.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4641C>G",
"hgvs_p": "p.Phe1547Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573346.1",
"strand": true,
"transcript": "ENST00000903287.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1771,
"aa_ref": "F",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6307,
"cdna_start": 4724,
"cds_end": null,
"cds_length": 5316,
"cds_start": 4614,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406667.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4614C>G",
"hgvs_p": "p.Phe1538Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393596.1",
"strand": true,
"transcript": "NM_001406667.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1770,
"aa_ref": "F",
"aa_start": 1537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6304,
"cdna_start": 4721,
"cds_end": null,
"cds_length": 5313,
"cds_start": 4611,
"consequences": [
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}