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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: 11-122102833-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=122102833&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MIR100HG",
"hgnc_id": 39522,
"hgvs_c": "n.388-11114T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000534782.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 27876,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 494,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534782.4",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.388-11114T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000534782.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1175,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000532315.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.872+2238T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000532315.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 586,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534195.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.99+2238T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000534195.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534297.2",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.377-11093T>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000534297.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637700.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.682-11114T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000637700.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648209.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.268-11114T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648209.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3137,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648734.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.614-11114T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648734.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3226,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649216.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.628-11114T>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000649216.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2971,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649293.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.448-11114T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000649293.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3740,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650497.2",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.1165-11114T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000650497.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000653167.2",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.478+2238T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000653167.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000653565.3",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.495-36399T>C",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": false,
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"strand": false,
"transcript": "ENST00000653565.3",
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},
{
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"biotype": "pseudogene",
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"cdna_end": null,
"cdna_length": 2038,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000654629.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.653-11093T>C",
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"mane_plus": null,
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"protein_coding": false,
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"transcript": "ENST00000654629.1",
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},
{
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"biotype": "pseudogene",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000655138.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.370-11114T>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000655138.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000655814.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.657-11093T>C",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": false,
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"transcript": "ENST00000655814.1",
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},
{
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"consequences": [
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],
"exon_count": 3,
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"feature": "ENST00000656793.2",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.380-11093T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000656793.2",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
"cdna_length": 3163,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000658364.2",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.546+2238T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000658364.2",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000660311.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.290+52718T>C",
"hgvs_p": null,
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"mane_plus": null,
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"transcript": "ENST00000660311.1",
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},
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"consequences": [
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],
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"feature": "ENST00000660603.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.263-11093T>C",
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"mane_plus": null,
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"protein_id": null,
"strand": false,
"transcript": "ENST00000660603.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000661848.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
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"protein_coding": false,
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"strand": false,
"transcript": "ENST00000661848.1",
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},
{
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"biotype": "pseudogene",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000662950.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.468-11114T>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000662950.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000663296.1",
"gene_hgnc_id": 39522,
"gene_symbol": "MIR100HG",
"hgvs_c": "n.329-11093T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
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