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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: 22-41178083-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41178083&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EP300",
"hgnc_id": 3373,
"hgvs_c": "c.6372C>A",
"hgvs_p": "p.Val2124Val",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001429.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "EP300-AS1",
"hgnc_id": 50504,
"hgvs_c": "n.82+4980G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000415054.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5199999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2414,
"aa_ref": "V",
"aa_start": 2124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8779,
"cdna_start": 6785,
"cds_end": null,
"cds_length": 7245,
"cds_start": 6372,
"consequences": [
"synonymous_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.6372C>A",
"hgvs_p": "p.Val2124Val",
"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": "V",
"aa_end": null,
"aa_length": 2414,
"aa_ref": "V",
"aa_start": 2124,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8779,
"cdna_start": 6785,
"cds_end": null,
"cds_length": 7245,
"cds_start": 6372,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000263253.9",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.6372C>A",
"hgvs_p": "p.Val2124Val",
"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": "V",
"aa_end": null,
"aa_length": 2424,
"aa_ref": "V",
"aa_start": 2134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9582,
"cdna_start": 7588,
"cds_end": null,
"cds_length": 7275,
"cds_start": 6402,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000916082.1",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.6402C>A",
"hgvs_p": "p.Val2134Val",
"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": "V",
"aa_end": null,
"aa_length": 2414,
"aa_ref": "V",
"aa_start": 2124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8859,
"cdna_start": 6867,
"cds_end": null,
"cds_length": 7245,
"cds_start": 6372,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000715703.1",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.6372C>A",
"hgvs_p": "p.Val2124Val",
"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": "V",
"aa_end": null,
"aa_length": 2398,
"aa_ref": "V",
"aa_start": 2108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9066,
"cdna_start": 7072,
"cds_end": null,
"cds_length": 7197,
"cds_start": 6324,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000916084.1",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.6324C>A",
"hgvs_p": "p.Val2108Val",
"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": "V",
"aa_end": null,
"aa_length": 2388,
"aa_ref": "V",
"aa_start": 2098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8701,
"cdna_start": 6707,
"cds_end": null,
"cds_length": 7167,
"cds_start": 6294,
"consequences": [
"synonymous_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.6294C>A",
"hgvs_p": "p.Val2098Val",
"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": "V",
"aa_end": null,
"aa_length": 2388,
"aa_ref": "V",
"aa_start": 2098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8288,
"cdna_start": 6294,
"cds_end": null,
"cds_length": 7167,
"cds_start": 6294,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000674155.1",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.6294C>A",
"hgvs_p": "p.Val2098Val",
"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": "V",
"aa_end": null,
"aa_length": 2383,
"aa_ref": "V",
"aa_start": 2093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9457,
"cdna_start": 7468,
"cds_end": null,
"cds_length": 7152,
"cds_start": 6279,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000916083.1",
"gene_hgnc_id": 3373,
"gene_symbol": "EP300",
"hgvs_c": "c.6279C>A",
"hgvs_p": "p.Val2093Val",
"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+4980G>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": "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.267-3259G>T",
"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.249-8502G>T",
"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,
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"feature": "ENST00000717630.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.252-1610G>T",
"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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"aa_ref": null,
"aa_start": null,
"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+4980G>T",
"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_length": null,
"aa_ref": null,
"aa_start": null,
"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+8210G>T",
"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.333-1610G>T",
"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
},
{
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"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+17399G>T",
"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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"cds_end": null,
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"consequences": [
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],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000774287.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.249-7897G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000774287.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000774288.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
"hgvs_c": "n.288+4980G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000774288.1",
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},
{
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"canonical": false,
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"consequences": [
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],
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"feature": "ENST00000774289.1",
"gene_hgnc_id": 50504,
"gene_symbol": "EP300-AS1",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000774289.1",
"transcript_support_level": null
},
{
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"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.253-1867G>T",
"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
},
{
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"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.164-1871G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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