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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: 15-72224251-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72224251&ref=G&alt=A&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": "PKM",
"hgnc_id": 9021,
"hgvs_c": "c.93-2967C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001206796.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 6155,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 531,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2305,
"cdna_start": null,
"cds_end": null,
"cds_length": 1596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002654.6",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.-13-5141C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335181.10",
"protein_coding": true,
"protein_id": "NP_002645.3",
"strand": false,
"transcript": "NM_002654.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 531,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2305,
"cdna_start": null,
"cds_end": null,
"cds_length": 1596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335181.10",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.-13-5141C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002654.6",
"protein_coding": true,
"protein_id": "ENSP00000334983.5",
"strand": false,
"transcript": "ENST00000335181.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 566,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": null,
"cds_end": null,
"cds_length": 1701,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000565184.6",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.93-5141C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455736.2",
"strand": false,
"transcript": "ENST00000565184.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 531,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": null,
"cds_end": null,
"cds_length": 1596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000568459.5",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.-13-5141C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456970.1",
"strand": false,
"transcript": "ENST00000568459.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 484,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1568,
"cdna_start": null,
"cds_end": null,
"cds_length": 1455,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561609.5",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.-14+4326C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457253.1",
"strand": false,
"transcript": "ENST00000561609.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 753,
"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": "ENST00000564276.1",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "n.76-5141C>T",
"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": "ENST00000564276.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 605,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": null,
"cds_end": null,
"cds_length": 1818,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001206796.3",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.93-2967C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193725.1",
"strand": false,
"transcript": "NM_001206796.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 605,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": null,
"cds_end": null,
"cds_length": 1818,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411081.1",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.93-2967C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398010.1",
"strand": false,
"transcript": "NM_001411081.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 605,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": null,
"cds_end": null,
"cds_length": 1818,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000565154.6",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.93-2967C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455901.2",
"strand": false,
"transcript": "ENST00000565154.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 605,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2578,
"cdna_start": null,
"cds_end": null,
"cds_length": 1818,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000698741.1",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.93-2967C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513903.1",
"strand": false,
"transcript": "ENST00000698741.1",
"transcript_support_level": null
},
{
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"aa_length": 593,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 2478,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000969850.1",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.-13-5141C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000639909.1",
"strand": false,
"transcript": "ENST00000969850.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 2447,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000933441.1",
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"protein_coding": true,
"protein_id": "ENSP00000603500.1",
"strand": false,
"transcript": "ENST00000933441.1",
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},
{
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],
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"feature": "NM_001316318.2",
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},
{
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "NM_001206799.2",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.3-5141C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001193728.1",
"strand": false,
"transcript": "NM_001206799.2",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 11,
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"feature": "NM_182470.4",
"gene_hgnc_id": 9021,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_872270.1",
"strand": false,
"transcript": "NM_182470.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "NM_182471.4",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.-13-5141C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_872271.1",
"strand": false,
"transcript": "NM_182471.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2717,
"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000319622.10",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.-13-5141C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000320171.6",
"strand": false,
"transcript": "ENST00000319622.10",
"transcript_support_level": 2
},
{
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000891959.1",
"gene_hgnc_id": 9021,
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"protein_id": "ENSP00000562018.1",
"strand": false,
"transcript": "ENST00000891959.1",
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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": "ENST00000891960.1",
"gene_hgnc_id": 9021,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000562019.1",
"strand": false,
"transcript": "ENST00000891960.1",
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},
{
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000891961.1",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.-13-5141C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562020.1",
"strand": false,
"transcript": "ENST00000891961.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891962.1",
"gene_hgnc_id": 9021,
"gene_symbol": "PKM",
"hgvs_c": "c.-13-5141C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562021.1",
"strand": false,
"transcript": "ENST00000891962.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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