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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: 1-150964064-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150964064&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150964064,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001366418.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3742G>A",
"hgvs_p": "p.Val1248Met",
"transcript": "NM_001366418.1",
"protein_id": "NP_001353347.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3742,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3908,
"cdna_end": null,
"cdna_length": 4418,
"mane_select": "ENST00000692827.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3742G>A",
"hgvs_p": "p.Val1248Met",
"transcript": "ENST00000692827.1",
"protein_id": "ENSP00000509425.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3742,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3908,
"cdna_end": null,
"cdna_length": 4418,
"mane_select": "NM_001366418.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3739G>A",
"hgvs_p": "p.Val1247Met",
"transcript": "ENST00000271640.9",
"protein_id": "ENSP00000271640.5",
"transcript_support_level": 1,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3739,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3929,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3739G>A",
"hgvs_p": "p.Val1247Met",
"transcript": "ENST00000368969.8",
"protein_id": "ENSP00000357965.4",
"transcript_support_level": 1,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3739,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 3856,
"cdna_end": null,
"cdna_length": 4370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3742G>A",
"hgvs_p": "p.Val1248Met",
"transcript": "NM_001366417.1",
"protein_id": "NP_001353346.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3742,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3839,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3742G>A",
"hgvs_p": "p.Val1248Met",
"transcript": "NM_001393958.1",
"protein_id": "NP_001380887.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3742,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3935,
"cdna_end": null,
"cdna_length": 4445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3742G>A",
"hgvs_p": "p.Val1248Met",
"transcript": "NM_001393959.1",
"protein_id": "NP_001380888.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3742,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3854,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3742G>A",
"hgvs_p": "p.Val1248Met",
"transcript": "ENST00000692314.1",
"protein_id": "ENSP00000508664.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3742,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3797,
"cdna_end": null,
"cdna_length": 4295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3739G>A",
"hgvs_p": "p.Val1247Met",
"transcript": "NM_001145415.2",
"protein_id": "NP_001138887.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3739,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3905,
"cdna_end": null,
"cdna_length": 4415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3739G>A",
"hgvs_p": "p.Val1247Met",
"transcript": "NM_001393960.1",
"protein_id": "NP_001380889.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3739,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3836,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3742G>A",
"hgvs_p": "p.Val1248Met",
"transcript": "NM_001393961.1",
"protein_id": "NP_001380890.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3742,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3839,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3739G>A",
"hgvs_p": "p.Val1247Met",
"transcript": "NM_012432.4",
"protein_id": "NP_036564.3",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3739,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 3905,
"cdna_end": null,
"cdna_length": 4412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3742G>A",
"hgvs_p": "p.Val1248Met",
"transcript": "XM_047435567.1",
"protein_id": "XP_047291523.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3742,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3922,
"cdna_end": null,
"cdna_length": 4432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3739G>A",
"hgvs_p": "p.Val1247Met",
"transcript": "XM_047435573.1",
"protein_id": "XP_047291529.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3739,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3851,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3739G>A",
"hgvs_p": "p.Val1247Met",
"transcript": "XM_047435579.1",
"protein_id": "XP_047291535.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3739,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3919,
"cdna_end": null,
"cdna_length": 4429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.3739G>A",
"hgvs_p": "p.Val1247Met",
"transcript": "XM_047435582.1",
"protein_id": "XP_047291538.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3739,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3932,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.2080G>A",
"hgvs_p": "p.Val694Met",
"transcript": "XM_047435586.1",
"protein_id": "XP_047291542.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 738,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2372,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "n.1813G>A",
"hgvs_p": null,
"transcript": "ENST00000497314.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "n.3637G>A",
"hgvs_p": null,
"transcript": "NR_172060.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.*253C>T",
"hgvs_p": null,
"transcript": "ENST00000561294.5",
"protein_id": "ENSP00000454160.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": -4,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "n.1258+210C>T",
"hgvs_p": null,
"transcript": "ENST00000482825.7",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.*213G>A",
"hgvs_p": null,
"transcript": "ENST00000498193.5",
"protein_id": "ENSP00000432348.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1258,
"cds_start": -4,
"cds_end": null,
"cds_length": 3779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "n.*216G>A",
"hgvs_p": null,
"transcript": "ENST00000533529.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8161011934280396,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.772,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9965,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001366418.1",
"gene_symbol": "SETDB1",
"hgnc_id": 10761,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3742G>A",
"hgvs_p": "p.Val1248Met"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000561294.5",
"gene_symbol": "CERS2",
"hgnc_id": 14076,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*253C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}