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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: 1-156591981-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156591981&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "NAXE",
"hgnc_id": 18453,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_144772.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.51,
"chr": "1",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " early-onset, progressive, with brain edema and/or leukoencephalopathy,Encephalopathy",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5099999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 288,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": 206,
"cds_end": null,
"cds_length": 867,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_144772.3",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368235.8",
"protein_coding": true,
"protein_id": "NP_658985.2",
"strand": true,
"transcript": "NM_144772.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 288,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": 206,
"cds_end": null,
"cds_length": 867,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000368235.8",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144772.3",
"protein_coding": true,
"protein_id": "ENSP00000357218.3",
"strand": true,
"transcript": "ENST00000368235.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 260,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 901,
"cdna_start": 220,
"cds_end": null,
"cds_length": 783,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000368234.7",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357217.3",
"strand": true,
"transcript": "ENST00000368234.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 304,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 990,
"cdna_start": 206,
"cds_end": null,
"cds_length": 915,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000969775.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639834.1",
"strand": true,
"transcript": "ENST00000969775.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 302,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 216,
"cds_end": null,
"cds_length": 909,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000680661.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505088.1",
"strand": true,
"transcript": "ENST00000680661.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 294,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1145,
"cdna_start": 222,
"cds_end": null,
"cds_length": 885,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000886059.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556118.1",
"strand": true,
"transcript": "ENST00000886059.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 288,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1510,
"cdna_start": 216,
"cds_end": null,
"cds_length": 867,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000679702.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505913.1",
"strand": true,
"transcript": "ENST00000679702.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 288,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1489,
"cdna_start": 216,
"cds_end": null,
"cds_length": 867,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000680004.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506275.1",
"strand": true,
"transcript": "ENST00000680004.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 288,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": 216,
"cds_end": null,
"cds_length": 867,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000680269.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505899.1",
"strand": true,
"transcript": "ENST00000680269.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 288,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1137,
"cdna_start": 216,
"cds_end": null,
"cds_length": 867,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000681054.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506192.1",
"strand": true,
"transcript": "ENST00000681054.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 288,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4044,
"cdna_start": 239,
"cds_end": null,
"cds_length": 867,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000886056.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556115.1",
"strand": true,
"transcript": "ENST00000886056.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 288,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1527,
"cdna_start": 214,
"cds_end": null,
"cds_length": 867,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000969770.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639829.1",
"strand": true,
"transcript": "ENST00000969770.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 288,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 211,
"cds_end": null,
"cds_length": 867,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000969771.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639830.1",
"strand": true,
"transcript": "ENST00000969771.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 288,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3614,
"cdna_start": 218,
"cds_end": null,
"cds_length": 867,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000969773.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639832.1",
"strand": true,
"transcript": "ENST00000969773.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 279,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 929,
"cdna_start": 220,
"cds_end": null,
"cds_length": 840,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000886061.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556120.1",
"strand": true,
"transcript": "ENST00000886061.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 267,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2452,
"cdna_start": 216,
"cds_end": null,
"cds_length": 804,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000681734.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506177.1",
"strand": true,
"transcript": "ENST00000681734.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 267,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1076,
"cdna_start": 235,
"cds_end": null,
"cds_length": 804,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000886057.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556116.1",
"strand": true,
"transcript": "ENST00000886057.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 265,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 858,
"cdna_start": 191,
"cds_end": null,
"cds_length": 798,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000886062.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556121.1",
"strand": true,
"transcript": "ENST00000886062.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 251,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1016,
"cdna_start": 222,
"cds_end": null,
"cds_length": 756,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000886058.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556117.1",
"strand": true,
"transcript": "ENST00000886058.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 251,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 211,
"cds_end": null,
"cds_length": 756,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000969769.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639828.1",
"strand": true,
"transcript": "ENST00000969769.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 251,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3905,
"cdna_start": 211,
"cds_end": null,
"cds_length": 756,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000969772.1",
"gene_hgnc_id": 18453,
"gene_symbol": "NAXE",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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