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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: 22-41178440-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41178440&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41178440,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001429.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"hgvs_c": "c.6729C>T",
"hgvs_p": "p.Gly2243Gly",
"transcript": "NM_001429.4",
"protein_id": "NP_001420.2",
"transcript_support_level": null,
"aa_start": 2243,
"aa_end": null,
"aa_length": 2414,
"cds_start": 6729,
"cds_end": null,
"cds_length": 7245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263253.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"hgvs_c": "c.6729C>T",
"hgvs_p": "p.Gly2243Gly",
"transcript": "ENST00000263253.9",
"protein_id": "ENSP00000263253.7",
"transcript_support_level": 1,
"aa_start": 2243,
"aa_end": null,
"aa_length": 2414,
"cds_start": 6729,
"cds_end": null,
"cds_length": 7245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001429.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263253.9"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"hgvs_c": "c.6759C>T",
"hgvs_p": "p.Gly2253Gly",
"transcript": "ENST00000916082.1",
"protein_id": "ENSP00000586141.1",
"transcript_support_level": null,
"aa_start": 2253,
"aa_end": null,
"aa_length": 2424,
"cds_start": 6759,
"cds_end": null,
"cds_length": 7275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916082.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"hgvs_c": "c.6729C>T",
"hgvs_p": "p.Gly2243Gly",
"transcript": "ENST00000715703.1",
"protein_id": "ENSP00000520505.1",
"transcript_support_level": null,
"aa_start": 2243,
"aa_end": null,
"aa_length": 2414,
"cds_start": 6729,
"cds_end": null,
"cds_length": 7245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715703.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"hgvs_c": "c.6681C>T",
"hgvs_p": "p.Gly2227Gly",
"transcript": "ENST00000916084.1",
"protein_id": "ENSP00000586143.1",
"transcript_support_level": null,
"aa_start": 2227,
"aa_end": null,
"aa_length": 2398,
"cds_start": 6681,
"cds_end": null,
"cds_length": 7197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916084.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"hgvs_c": "c.6651C>T",
"hgvs_p": "p.Gly2217Gly",
"transcript": "NM_001362843.2",
"protein_id": "NP_001349772.1",
"transcript_support_level": null,
"aa_start": 2217,
"aa_end": null,
"aa_length": 2388,
"cds_start": 6651,
"cds_end": null,
"cds_length": 7167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362843.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"hgvs_c": "c.6651C>T",
"hgvs_p": "p.Gly2217Gly",
"transcript": "ENST00000674155.1",
"protein_id": "ENSP00000501078.1",
"transcript_support_level": null,
"aa_start": 2217,
"aa_end": null,
"aa_length": 2388,
"cds_start": 6651,
"cds_end": null,
"cds_length": 7167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674155.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"hgvs_c": "c.6636C>T",
"hgvs_p": "p.Gly2212Gly",
"transcript": "ENST00000916083.1",
"protein_id": "ENSP00000586142.1",
"transcript_support_level": null,
"aa_start": 2212,
"aa_end": null,
"aa_length": 2383,
"cds_start": 6636,
"cds_end": null,
"cds_length": 7152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916083.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.82+4623G>A",
"hgvs_p": null,
"transcript": "ENST00000415054.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000415054.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.267-3616G>A",
"hgvs_p": null,
"transcript": "ENST00000420537.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000420537.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.249-8859G>A",
"hgvs_p": null,
"transcript": "ENST00000717629.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000717629.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.252-1967G>A",
"hgvs_p": null,
"transcript": "ENST00000717630.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000717630.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.357+4623G>A",
"hgvs_p": null,
"transcript": "ENST00000717631.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000717631.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.267+7853G>A",
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"transcript": "ENST00000717632.1",
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"biotype": "pseudogene",
"feature": "ENST00000717632.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.333-1967G>A",
"hgvs_p": null,
"transcript": "ENST00000717633.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000717633.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.77+17042G>A",
"hgvs_p": null,
"transcript": "ENST00000774286.1",
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"biotype": "pseudogene",
"feature": "ENST00000774286.1"
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.249-8254G>A",
"hgvs_p": null,
"transcript": "ENST00000774287.1",
"protein_id": null,
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000774287.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.288+4623G>A",
"hgvs_p": null,
"transcript": "ENST00000774288.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000774288.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "EP300-AS1",
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"hgvs_c": "n.203-3616G>A",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
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"hgvs_c": "n.253-2224G>A",
"hgvs_p": null,
"transcript": "ENST00000774290.1",
"protein_id": null,
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"aa_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000774290.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.164-2228G>A",
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"transcript": "ENST00000774291.1",
"protein_id": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000774291.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.319-2228G>A",
"hgvs_p": null,
"transcript": "ENST00000774292.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000774292.1"
}
],
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"dbsnp": "rs765194008",
"frequency_reference_population": 0.000120200944,
"hom_count_reference_population": 2,
"allele_count_reference_population": 194,
"gnomad_exomes_af": 0.00012518,
"gnomad_genomes_af": 0.0000723342,
"gnomad_exomes_ac": 183,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.272,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001429.4",
"gene_symbol": "EP300",
"hgnc_id": 3373,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6729C>T",
"hgvs_p": "p.Gly2243Gly"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000415054.1",
"gene_symbol": "EP300-AS1",
"hgnc_id": 50504,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.82+4623G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "not specified|not provided|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}