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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: 1-109751670-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109751670&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 109751670,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_139053.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1547G>A",
"hgvs_p": "p.Gly516Asp",
"transcript": "NM_133181.4",
"protein_id": "NP_573444.2",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 593,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361965.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133181.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1547G>A",
"hgvs_p": "p.Gly516Asp",
"transcript": "ENST00000361965.9",
"protein_id": "ENSP00000355255.4",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 593,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133181.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361965.9"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1550G>A",
"hgvs_p": "p.Gly517Asp",
"transcript": "ENST00000369805.7",
"protein_id": "ENSP00000358820.3",
"transcript_support_level": 1,
"aa_start": 517,
"aa_end": null,
"aa_length": 594,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369805.7"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Gly486Asp",
"transcript": "ENST00000361852.8",
"protein_id": "ENSP00000354551.4",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 563,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361852.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "n.*1426G>A",
"hgvs_p": null,
"transcript": "ENST00000472325.5",
"protein_id": "ENSP00000483789.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000472325.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "n.*1426G>A",
"hgvs_p": null,
"transcript": "ENST00000472325.5",
"protein_id": "ENSP00000483789.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000472325.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Gly598Asp",
"transcript": "ENST00000888981.1",
"protein_id": "ENSP00000559040.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 675,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888981.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1790G>A",
"hgvs_p": "p.Gly597Asp",
"transcript": "ENST00000888977.1",
"protein_id": "ENSP00000559036.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 674,
"cds_start": 1790,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888977.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1787G>A",
"hgvs_p": "p.Gly596Asp",
"transcript": "ENST00000888985.1",
"protein_id": "ENSP00000559044.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 673,
"cds_start": 1787,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888985.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1703G>A",
"hgvs_p": "p.Gly568Asp",
"transcript": "ENST00000888976.1",
"protein_id": "ENSP00000559035.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 645,
"cds_start": 1703,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888976.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Gly567Asp",
"transcript": "ENST00000888982.1",
"protein_id": "ENSP00000559041.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 644,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888982.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1574G>A",
"hgvs_p": "p.Gly525Asp",
"transcript": "ENST00000888983.1",
"protein_id": "ENSP00000559042.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 602,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888983.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1571G>A",
"hgvs_p": "p.Gly524Asp",
"transcript": "ENST00000888978.1",
"protein_id": "ENSP00000559037.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 601,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888978.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1550G>A",
"hgvs_p": "p.Gly517Asp",
"transcript": "NM_139053.3",
"protein_id": "NP_620641.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 594,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139053.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1547G>A",
"hgvs_p": "p.Gly516Asp",
"transcript": "ENST00000888980.1",
"protein_id": "ENSP00000559039.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 593,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888980.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1544G>A",
"hgvs_p": "p.Gly515Asp",
"transcript": "ENST00000888974.1",
"protein_id": "ENSP00000559033.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 592,
"cds_start": 1544,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888974.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Gly487Asp",
"transcript": "ENST00000888975.1",
"protein_id": "ENSP00000559034.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 579,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888975.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Gly487Asp",
"transcript": "ENST00000888973.1",
"protein_id": "ENSP00000559032.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 564,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888973.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Gly486Asp",
"transcript": "NM_024526.4",
"protein_id": "NP_078802.2",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 563,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024526.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Gly485Asp",
"transcript": "ENST00000888979.1",
"protein_id": "ENSP00000559038.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 562,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888979.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Gly484Asp",
"transcript": "ENST00000952212.1",
"protein_id": "ENSP00000622271.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 561,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952212.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Gly478Asp",
"transcript": "ENST00000952210.1",
"protein_id": "ENSP00000622269.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 555,
"cds_start": 1433,
"cds_end": null,
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"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"dbsnp": "rs370846877",
"frequency_reference_population": 0.0000061961096,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.0000054725,
"gnomad_genomes_af": 0.0000131527,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05212712287902832,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.01,
"revel_prediction": "Benign",
"alphamissense_score": 0.0772,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.569,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_139053.3",
"gene_symbol": "EPS8L3",
"hgnc_id": 21297,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1550G>A",
"hgvs_p": "p.Gly517Asp"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000429410.2",
"gene_symbol": "GSTM5",
"hgnc_id": 4637,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.83-23402C>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000431955.1",
"gene_symbol": "ENSG00000241720",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.627+14529C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}