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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: 3-188234588-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=188234588&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LPP",
"hgnc_id": 6679,
"hgvs_c": "c.-10+9061A>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_005578.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18316,
"cdna_start": null,
"cds_end": null,
"cds_length": 1839,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375462.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-67+9061A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000617246.5",
"protein_coding": true,
"protein_id": "NP_001362391.1",
"strand": true,
"transcript": "NM_001375462.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 18316,
"cdna_start": null,
"cds_end": null,
"cds_length": 1839,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000617246.5",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-67+9061A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001375462.1",
"protein_coding": true,
"protein_id": "ENSP00000478901.1",
"strand": true,
"transcript": "ENST00000617246.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18277,
"cdna_start": null,
"cds_end": null,
"cds_length": 1839,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618621.5",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-10+9061A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482617.2",
"strand": true,
"transcript": "ENST00000618621.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18344,
"cdna_start": null,
"cds_end": null,
"cds_length": 1839,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001167671.3",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-67+9061A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161143.1",
"strand": true,
"transcript": "NM_001167671.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18506,
"cdna_start": null,
"cds_end": null,
"cds_length": 1839,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375455.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-10+9061A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362384.1",
"strand": true,
"transcript": "NM_001375455.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18502,
"cdna_start": null,
"cds_end": null,
"cds_length": 1839,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375456.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-10+26270A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362385.1",
"strand": true,
"transcript": "NM_001375456.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18625,
"cdna_start": null,
"cds_end": null,
"cds_length": 1839,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375457.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-10+9061A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362386.1",
"strand": true,
"transcript": "NM_001375457.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18287,
"cdna_start": null,
"cds_end": null,
"cds_length": 1839,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375458.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-10+9061A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362387.1",
"strand": true,
"transcript": "NM_001375458.1",
"transcript_support_level": null
},
{
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"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18221,
"cdna_start": null,
"cds_end": null,
"cds_length": 1839,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375459.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-67+80567A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362388.1",
"strand": true,
"transcript": "NM_001375459.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 612,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18406,
"cdna_start": null,
"cds_end": null,
"cds_length": 1839,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375460.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-10+9061A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362389.1",
"strand": true,
"transcript": "NM_001375460.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375461.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-10+26203A>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001362390.1",
"strand": true,
"transcript": "NM_001375461.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
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"feature": "NM_001375463.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001362392.1",
"strand": true,
"transcript": "NM_001375463.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "NM_001375464.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001362393.1",
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"transcript": "NM_001375464.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "NM_001375465.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-10+21757A>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362394.1",
"strand": true,
"transcript": "NM_001375465.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "NM_001387663.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-67+80336A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001374592.1",
"strand": true,
"transcript": "NM_001387663.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
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"feature": "NM_001387664.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-67+26270A>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001374593.1",
"strand": true,
"transcript": "NM_001387664.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387665.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-67+9061A>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001374594.1",
"strand": true,
"transcript": "NM_001387665.1",
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},
{
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"consequences": [
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],
"exon_count": 13,
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"feature": "NM_001387666.1",
"gene_hgnc_id": 6679,
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"transcript": "NM_001387666.1",
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},
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"consequences": [
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],
"exon_count": 12,
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"feature": "NM_001387667.1",
"gene_hgnc_id": 6679,
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"protein_coding": true,
"protein_id": "NP_001374596.1",
"strand": true,
"transcript": "NM_001387667.1",
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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": "NM_001387668.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-10+26270A>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001374597.1",
"strand": true,
"transcript": "NM_001387668.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387669.1",
"gene_hgnc_id": 6679,
"gene_symbol": "LPP",
"hgvs_c": "c.-10+9061A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374598.1",
"strand": true,
"transcript": "NM_001387669.1",
"transcript_support_level": null
},
{
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