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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: 22-41177802-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41177802&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EP300",
"hgnc_id": 3373,
"hgvs_c": "c.6091C>T",
"hgvs_p": "p.Pro2031Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_001429.4",
"verdict": "Benign"
},
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "EP300-AS1",
"hgnc_id": 50504,
"hgvs_c": "n.82+5261G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -1,
"transcript": "ENST00000415054.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_score": -7,
"allele_count_reference_population": 10,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0861,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "22",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "EP300-related disorder,Inborn genetic diseases,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13569289445877075,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2414,
"aa_ref": "P",
"aa_start": 2031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8779,
"cdna_start": 6504,
"cds_end": null,
"cds_length": 7245,
"cds_start": 6091,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001429.4",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.6091C>T",
"hgvs_p": "p.Pro2031Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263253.9",
"protein_coding": true,
"protein_id": "NP_001420.2",
"strand": true,
"transcript": "NM_001429.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2414,
"aa_ref": "P",
"aa_start": 2031,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8779,
"cdna_start": 6504,
"cds_end": null,
"cds_length": 7245,
"cds_start": 6091,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000263253.9",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.6091C>T",
"hgvs_p": "p.Pro2031Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001429.4",
"protein_coding": true,
"protein_id": "ENSP00000263253.7",
"strand": true,
"transcript": "ENST00000263253.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2424,
"aa_ref": "P",
"aa_start": 2041,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9582,
"cdna_start": 7307,
"cds_end": null,
"cds_length": 7275,
"cds_start": 6121,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000916082.1",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.6121C>T",
"hgvs_p": "p.Pro2041Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586141.1",
"strand": true,
"transcript": "ENST00000916082.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2414,
"aa_ref": "P",
"aa_start": 2031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8859,
"cdna_start": 6586,
"cds_end": null,
"cds_length": 7245,
"cds_start": 6091,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000715703.1",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.6091C>T",
"hgvs_p": "p.Pro2031Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520505.1",
"strand": true,
"transcript": "ENST00000715703.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2398,
"aa_ref": "P",
"aa_start": 2015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9066,
"cdna_start": 6791,
"cds_end": null,
"cds_length": 7197,
"cds_start": 6043,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000916084.1",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.6043C>T",
"hgvs_p": "p.Pro2015Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586143.1",
"strand": true,
"transcript": "ENST00000916084.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2388,
"aa_ref": "P",
"aa_start": 2005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8701,
"cdna_start": 6426,
"cds_end": null,
"cds_length": 7167,
"cds_start": 6013,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001362843.2",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.6013C>T",
"hgvs_p": "p.Pro2005Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349772.1",
"strand": true,
"transcript": "NM_001362843.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2388,
"aa_ref": "P",
"aa_start": 2005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8288,
"cdna_start": 6013,
"cds_end": null,
"cds_length": 7167,
"cds_start": 6013,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000674155.1",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.6013C>T",
"hgvs_p": "p.Pro2005Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501078.1",
"strand": true,
"transcript": "ENST00000674155.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2383,
"aa_ref": "P",
"aa_start": 2000,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9457,
"cdna_start": 7187,
"cds_end": null,
"cds_length": 7152,
"cds_start": 5998,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000916083.1",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.5998C>T",
"hgvs_p": "p.Pro2000Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586142.1",
"strand": true,
"transcript": "ENST00000916083.1",
"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": 357,
"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": "ENST00000415054.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.82+5261G>A",
"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": "ENST00000415054.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 509,
"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": "ENST00000420537.2",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.267-2978G>A",
"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": "ENST00000420537.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 760,
"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": "ENST00000717629.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.249-8221G>A",
"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": "ENST00000717629.1",
"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": 1236,
"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": "ENST00000717630.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.252-1329G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000717630.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 579,
"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": "ENST00000717631.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.357+5261G>A",
"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": "ENST00000717631.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 346,
"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": "ENST00000717632.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.267+8491G>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000717632.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1308,
"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": "ENST00000717633.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.333-1329G>A",
"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": "ENST00000717633.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 302,
"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": "ENST00000774286.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.77+17680G>A",
"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": "ENST00000774286.1",
"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,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000774287.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.249-7616G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000774287.1",
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},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 453,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000774288.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.288+5261G>A",
"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": "ENST00000774288.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 445,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000774289.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.203-2978G>A",
"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": "ENST00000774289.1",
"transcript_support_level": null
},
{
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 648,
"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": "ENST00000774290.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.253-1586G>A",
"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": "ENST00000774290.1",
"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": 554,
"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": "ENST00000774291.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.164-1590G>A",
"hgvs_p": null,
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},
{
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],
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],
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"phylop100way_prediction": "Uncertain_significance",
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}
]
}