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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: 16-2088298-CCGCCA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2088298&ref=CCGCCA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "TSC2",
"hgnc_id": 12363,
"hgvs_c": "c.5234_5238delGCCAC",
"hgvs_p": "p.Arg1745fs",
"inheritance_mode": "AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_000548.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Tuberous sclerosis syndrome,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1 O:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1807,
"aa_ref": "RH",
"aa_start": 1745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6415,
"cdna_start": 5344,
"cds_end": null,
"cds_length": 5424,
"cds_start": 5234,
"consequences": [
"frameshift_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_000548.5",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5234_5238delGCCAC",
"hgvs_p": "p.Arg1745fs",
"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": null,
"aa_end": null,
"aa_length": 1807,
"aa_ref": "RH",
"aa_start": 1745,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6415,
"cdna_start": 5344,
"cds_end": null,
"cds_length": 5424,
"cds_start": 5234,
"consequences": [
"frameshift_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000219476.9",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5234_5238delGCCAC",
"hgvs_p": "p.Arg1745fs",
"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": null,
"aa_end": null,
"aa_length": 1784,
"aa_ref": "RH",
"aa_start": 1722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 5240,
"cds_end": null,
"cds_length": 5355,
"cds_start": 5165,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000350773.9",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5165_5169delGCCAC",
"hgvs_p": "p.Arg1722fs",
"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": null,
"aa_end": null,
"aa_length": 1740,
"aa_ref": "RH",
"aa_start": 1678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5437,
"cdna_start": 5139,
"cds_end": null,
"cds_length": 5223,
"cds_start": 5033,
"consequences": [
"frameshift_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000401874.7",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5033_5037delGCCAC",
"hgvs_p": "p.Arg1678fs",
"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": 37,
"exon_rank_end": null,
"feature": "ENST00000439117.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*4401_*4405delGCCAC",
"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": 37,
"exon_rank_end": null,
"feature": "ENST00000439117.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*4401_*4405delGCCAC",
"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": 1837,
"aa_ref": "RH",
"aa_start": 1775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6505,
"cdna_start": 5434,
"cds_end": null,
"cds_length": 5514,
"cds_start": 5324,
"consequences": [
"frameshift_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000645186.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5324_5328delGCCAC",
"hgvs_p": "p.Arg1775fs",
"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": null,
"aa_end": null,
"aa_length": 1806,
"aa_ref": "RH",
"aa_start": 1744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6412,
"cdna_start": 5341,
"cds_end": null,
"cds_length": 5421,
"cds_start": 5231,
"consequences": [
"frameshift_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001406663.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5231_5235delGCCAC",
"hgvs_p": "p.Arg1744fs",
"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": null,
"aa_end": null,
"aa_length": 1806,
"aa_ref": "RH",
"aa_start": 1744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5574,
"cdna_start": 5302,
"cds_end": null,
"cds_length": 5421,
"cds_start": 5231,
"consequences": [
"frameshift_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000642365.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5231_5235delGCCAC",
"hgvs_p": "p.Arg1744fs",
"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": null,
"aa_end": null,
"aa_length": 1805,
"aa_ref": "RH",
"aa_start": 1743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5614,
"cdna_start": 5314,
"cds_end": null,
"cds_length": 5418,
"cds_start": 5228,
"consequences": [
"frameshift_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000646388.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5228_5232delGCCAC",
"hgvs_p": "p.Arg1743fs",
"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": null,
"aa_end": null,
"aa_length": 1799,
"aa_ref": "RH",
"aa_start": 1737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5623,
"cdna_start": 5323,
"cds_end": null,
"cds_length": 5400,
"cds_start": 5210,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000941763.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5210_5214delGCCAC",
"hgvs_p": "p.Arg1737fs",
"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": null,
"aa_end": null,
"aa_length": 1796,
"aa_ref": "RH",
"aa_start": 1734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5594,
"cdna_start": 5311,
"cds_end": null,
"cds_length": 5391,
"cds_start": 5201,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000903285.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5201_5205delGCCAC",
"hgvs_p": "p.Arg1734fs",
"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": null,
"aa_end": null,
"aa_length": 1784,
"aa_ref": "RH",
"aa_start": 1722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6346,
"cdna_start": 5275,
"cds_end": null,
"cds_length": 5355,
"cds_start": 5165,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001114382.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5165_5169delGCCAC",
"hgvs_p": "p.Arg1722fs",
"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": null,
"aa_end": null,
"aa_length": 1783,
"aa_ref": "RH",
"aa_start": 1721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6343,
"cdna_start": 5272,
"cds_end": null,
"cds_length": 5352,
"cds_start": 5162,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001406664.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5162_5166delGCCAC",
"hgvs_p": "p.Arg1721fs",
"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": null,
"aa_end": null,
"aa_length": 1782,
"aa_ref": "RH",
"aa_start": 1720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6344,
"cdna_start": 5277,
"cds_end": null,
"cds_length": 5349,
"cds_start": 5159,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000643946.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5159_5163delGCCAC",
"hgvs_p": "p.Arg1720fs",
"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": null,
"aa_end": null,
"aa_length": 1781,
"aa_ref": "RH",
"aa_start": 1719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 5266,
"cds_end": null,
"cds_length": 5346,
"cds_start": 5156,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001406665.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5156_5160delGCCAC",
"hgvs_p": "p.Arg1719fs",
"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": null,
"aa_end": null,
"aa_length": 1781,
"aa_ref": "RH",
"aa_start": 1719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5528,
"cdna_start": 5233,
"cds_end": null,
"cds_length": 5346,
"cds_start": 5156,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000941766.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5156_5160delGCCAC",
"hgvs_p": "p.Arg1719fs",
"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": null,
"aa_end": null,
"aa_length": 1780,
"aa_ref": "RH",
"aa_start": 1718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5445,
"cdna_start": 5155,
"cds_end": null,
"cds_length": 5343,
"cds_start": 5153,
"consequences": [
"frameshift_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000644399.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5153_5157delGCCAC",
"hgvs_p": "p.Arg1718fs",
"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": null,
"aa_end": null,
"aa_length": 1780,
"aa_ref": "RH",
"aa_start": 1718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 5240,
"cds_end": null,
"cds_length": 5343,
"cds_start": 5153,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000903287.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5153_5157delGCCAC",
"hgvs_p": "p.Arg1718fs",
"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": null,
"aa_end": null,
"aa_length": 1771,
"aa_ref": "RH",
"aa_start": 1709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6307,
"cdna_start": 5236,
"cds_end": null,
"cds_length": 5316,
"cds_start": 5126,
"consequences": [
"frameshift_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001406667.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5126_5130delGCCAC",
"hgvs_p": "p.Arg1709fs",
"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": null,
"aa_end": null,
"aa_length": 1770,
"aa_ref": "RH",
"aa_start": 1708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6304,
"cdna_start": 5233,
"cds_end": null,
"cds_length": 5313,
"cds_start": 5123,
"consequences": [
"frameshift_variant"
],
"exon_count": 40,
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