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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: 1-8865352-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=8865352&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 8865352,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001428.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "NM_001428.5",
"protein_id": "NP_001419.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": "ENST00000234590.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001428.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000234590.10",
"protein_id": "ENSP00000234590.4",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": "NM_001428.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234590.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "n.1683C>A",
"hgvs_p": null,
"transcript": "ENST00000464920.2",
"protein_id": null,
"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": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464920.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.828C>A",
"hgvs_p": "p.Asp276Glu",
"transcript": "ENST00000879697.1",
"protein_id": "ENSP00000549756.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 444,
"cds_start": 828,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879697.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.828C>A",
"hgvs_p": "p.Asp276Glu",
"transcript": "ENST00000935305.1",
"protein_id": "ENSP00000605364.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 442,
"cds_start": 828,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935305.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "NM_001353346.3",
"protein_id": "NP_001340275.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353346.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000647408.1",
"protein_id": "ENSP00000495530.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647408.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000879694.1",
"protein_id": "ENSP00000549753.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879694.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000879696.1",
"protein_id": "ENSP00000549755.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879696.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000879698.1",
"protein_id": "ENSP00000549757.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879698.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000879700.1",
"protein_id": "ENSP00000549759.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879700.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000879703.1",
"protein_id": "ENSP00000549762.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879703.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000879704.1",
"protein_id": "ENSP00000549763.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879704.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000879705.1",
"protein_id": "ENSP00000549764.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879705.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000879706.1",
"protein_id": "ENSP00000549765.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879706.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000879707.1",
"protein_id": "ENSP00000549766.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879707.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000935295.1",
"protein_id": "ENSP00000605354.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935295.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000935306.1",
"protein_id": "ENSP00000605365.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935306.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000935307.1",
"protein_id": "ENSP00000605366.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935307.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000971792.1",
"protein_id": "ENSP00000641851.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971792.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000971795.1",
"protein_id": "ENSP00000641854.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971795.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO1",
"gene_hgnc_id": 3350,
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu",
"transcript": "ENST00000971796.1",
"protein_id": "ENSP00000641855.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 434,
"cds_start": 798,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971796.1"
},
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"dbsnp": "rs563905264",
"frequency_reference_population": 6.8404785e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84048e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23382654786109924,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.205,
"revel_prediction": "Benign",
"alphamissense_score": 0.3419,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.822,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001428.5",
"gene_symbol": "ENO1",
"hgnc_id": 3350,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.798C>A",
"hgvs_p": "p.Asp266Glu"
}
],
"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
}