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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: 10-87060835-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87060835&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GLUD1",
"hgnc_id": 4335,
"hgvs_c": "c.1060-10T>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_005271.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 72426,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "10",
"clinvar_classification": "Benign",
"clinvar_disease": "Hyperinsulinism-hyperammonemia syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 558,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": null,
"cds_end": null,
"cds_length": 1677,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005271.5",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1060-10T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000277865.5",
"protein_coding": true,
"protein_id": "NP_005262.1",
"strand": false,
"transcript": "NM_005271.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 558,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": null,
"cds_end": null,
"cds_length": 1677,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000277865.5",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1060-10T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005271.5",
"protein_coding": true,
"protein_id": "ENSP00000277865.4",
"strand": false,
"transcript": "ENST00000277865.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 574,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": null,
"cds_end": null,
"cds_length": 1725,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915201.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1108-10T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585260.1",
"strand": false,
"transcript": "ENST00000915201.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 571,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": null,
"cds_end": null,
"cds_length": 1716,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898383.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1099-10T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568442.1",
"strand": false,
"transcript": "ENST00000898383.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3020,
"cdna_start": null,
"cds_end": null,
"cds_length": 1650,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944406.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1033-10T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614465.1",
"strand": false,
"transcript": "ENST00000944406.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 548,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": null,
"cds_end": null,
"cds_length": 1647,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898388.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1060-40T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568447.1",
"strand": false,
"transcript": "ENST00000898388.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898382.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1060-10T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568441.1",
"strand": false,
"transcript": "ENST00000898382.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 532,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": null,
"cds_end": null,
"cds_length": 1599,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684338.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1060-10T>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507457.1",
"strand": false,
"transcript": "ENST00000684338.1",
"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": 3000,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000898387.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.979-10T>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568446.1",
"strand": false,
"transcript": "ENST00000898387.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 2945,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000915200.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.940-10T>A",
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"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000585259.1",
"strand": false,
"transcript": "ENST00000915200.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000898385.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000568444.1",
"strand": false,
"transcript": "ENST00000898385.1",
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},
{
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],
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"feature": "ENST00000915199.1",
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},
{
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],
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"feature": "ENST00000898386.1",
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"protein_id": "ENSP00000568445.1",
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"transcript": "ENST00000898386.1",
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},
{
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"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000898384.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.859-10T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000568443.1",
"strand": false,
"transcript": "ENST00000898384.1",
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},
{
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],
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"feature": "ENST00000898390.1",
"gene_hgnc_id": 4335,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000568449.1",
"strand": false,
"transcript": "ENST00000898390.1",
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},
{
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000684201.1",
"gene_hgnc_id": 4335,
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"hgvs_c": "c.922-594T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000507887.1",
"strand": false,
"transcript": "ENST00000684201.1",
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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": 10,
"exon_rank": null,
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"feature": "ENST00000944407.1",
"gene_hgnc_id": 4335,
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"hgvs_c": "c.922-594T>A",
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},
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],
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"feature": "NM_001318900.1",
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"strand": false,
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},
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],
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"feature": "ENST00000898392.1",
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"transcript": "ENST00000898392.1",
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
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"feature": "NM_001318901.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.559-10T>A",
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"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305830.1",
"strand": false,
"transcript": "NM_001318901.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
"cds_length": 1176,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318902.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.559-10T>A",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305831.1",
"strand": false,
"transcript": "NM_001318902.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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