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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: 20-45425562-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45425562&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PIGT",
"hgnc_id": 14938,
"hgvs_c": "c.1485-12C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_015937.6",
"verdict": "Benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "MIR6812",
"hgnc_id": 50116,
"hgvs_c": "n.53C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "NR_106870.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1",
"acmg_score": -10,
"allele_count_reference_population": 60,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.77,
"chr": "20",
"clinvar_classification": "Benign",
"clinvar_disease": "Multiple congenital anomalies-hypotonia-seizures syndrome 3",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7699999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 578,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": null,
"cds_end": null,
"cds_length": 1737,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015937.6",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1485-12C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000279036.12",
"protein_coding": true,
"protein_id": "NP_057021.2",
"strand": true,
"transcript": "NM_015937.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 578,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": null,
"cds_end": null,
"cds_length": 1737,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000279036.12",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1485-12C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015937.6",
"protein_coding": true,
"protein_id": "ENSP00000279036.6",
"strand": true,
"transcript": "ENST00000279036.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 511,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": null,
"cds_end": null,
"cds_length": 1536,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372689.9",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1284-12C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361774.4",
"strand": true,
"transcript": "ENST00000372689.9",
"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": 2159,
"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": "ENST00000639292.2",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1566-12C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491678.2",
"strand": true,
"transcript": "ENST00000639292.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 580,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": null,
"cds_end": null,
"cds_length": 1743,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640324.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1491-12C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491074.1",
"strand": true,
"transcript": "ENST00000640324.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 575,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": null,
"cds_end": null,
"cds_length": 1728,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854445.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1476-12C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524504.1",
"strand": true,
"transcript": "ENST00000854445.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 572,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": null,
"cds_end": null,
"cds_length": 1719,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956767.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1467-12C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626826.1",
"strand": true,
"transcript": "ENST00000956767.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 569,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2155,
"cdna_start": null,
"cds_end": null,
"cds_length": 1710,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854442.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1458-12C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524501.1",
"strand": true,
"transcript": "ENST00000854442.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 562,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": null,
"cds_end": null,
"cds_length": 1689,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956771.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1437-12C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626830.1",
"strand": true,
"transcript": "ENST00000956771.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 550,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": null,
"cds_end": null,
"cds_length": 1653,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638691.2",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1401-12C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492094.2",
"strand": true,
"transcript": "ENST00000638691.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 550,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": null,
"cds_end": null,
"cds_length": 1653,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956773.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1401-12C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626832.1",
"strand": true,
"transcript": "ENST00000956773.1",
"transcript_support_level": null
},
{
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"aa_length": 538,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": null,
"cds_end": null,
"cds_length": 1617,
"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956775.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1365-12C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000626834.1",
"strand": true,
"transcript": "ENST00000956775.1",
"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": 2023,
"cdna_start": null,
"cds_end": null,
"cds_length": 1590,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911912.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1338-12C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581971.1",
"strand": true,
"transcript": "ENST00000911912.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 522,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2000,
"cdna_start": null,
"cds_end": null,
"cds_length": 1569,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001184728.3",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1317-12C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171657.1",
"strand": true,
"transcript": "NM_001184728.3",
"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": 2037,
"cdna_start": null,
"cds_end": null,
"cds_length": 1569,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543458.7",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1317-12C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441577.1",
"strand": true,
"transcript": "ENST00000543458.7",
"transcript_support_level": 2
},
{
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"aa_length": 516,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": null,
"cds_end": null,
"cds_length": 1551,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956774.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1299-12C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626833.1",
"strand": true,
"transcript": "ENST00000956774.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1967,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "NM_001184729.3",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1284-12C>T",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001171658.1",
"strand": true,
"transcript": "NM_001184729.3",
"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": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638594.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1484+983C>T",
"hgvs_p": null,
"intron_rank": 11,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000491697.1",
"strand": true,
"transcript": "ENST00000638594.1",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000854443.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1200-12C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524502.1",
"strand": true,
"transcript": "ENST00000854443.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": null,
"cds_end": null,
"cds_length": 1452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956772.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.1284-96C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626831.1",
"strand": true,
"transcript": "ENST00000956772.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 476,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": null,
"cds_end": null,
"cds_length": 1431,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001184730.3",
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