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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: 10-101579710-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101579710&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101579710,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000370162.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Ile491Val",
"transcript": "NM_001174084.2",
"protein_id": "NP_001167555.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 575,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": "ENST00000370162.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Ile491Val",
"transcript": "ENST00000370162.8",
"protein_id": "ENSP00000359181.3",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 575,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": "NM_001174084.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Ile491Val",
"transcript": "ENST00000299206.8",
"protein_id": "ENSP00000299206.4",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 575,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Ile491Val",
"transcript": "ENST00000370169.5",
"protein_id": "ENSP00000359188.1",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 575,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val",
"transcript": "ENST00000339310.7",
"protein_id": "ENSP00000343102.3",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 298,
"cds_start": 640,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.490A>G",
"hgvs_p": "p.Ile164Val",
"transcript": "ENST00000370168.7",
"protein_id": "ENSP00000359187.3",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 248,
"cds_start": 490,
"cds_end": null,
"cds_length": 747,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "n.2086A>G",
"hgvs_p": null,
"transcript": "ENST00000463515.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 2914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Ile491Val",
"transcript": "NM_013274.4",
"protein_id": "NP_037406.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 575,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1207A>G",
"hgvs_p": "p.Ile403Val",
"transcript": "ENST00000370172.5",
"protein_id": "ENSP00000359191.1",
"transcript_support_level": 2,
"aa_start": 403,
"aa_end": null,
"aa_length": 487,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Ile399Val",
"transcript": "NM_001174085.2",
"protein_id": "NP_001167556.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 483,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1216A>G",
"hgvs_p": "p.Ile406Val",
"transcript": "ENST00000415897.5",
"protein_id": "ENSP00000400676.1",
"transcript_support_level": 5,
"aa_start": 406,
"aa_end": null,
"aa_length": 469,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1411,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.646A>G",
"hgvs_p": "p.Ile216Val",
"transcript": "NM_001308382.2",
"protein_id": "NP_001295311.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 300,
"cds_start": 646,
"cds_end": null,
"cds_length": 903,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.646A>G",
"hgvs_p": "p.Ile216Val",
"transcript": "ENST00000628479.2",
"protein_id": "ENSP00000485885.1",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 300,
"cds_start": 646,
"cds_end": null,
"cds_length": 903,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 1953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val",
"transcript": "ENST00000429502.1",
"protein_id": "ENSP00000406791.1",
"transcript_support_level": 5,
"aa_start": 214,
"aa_end": null,
"aa_length": 217,
"cds_start": 640,
"cds_end": null,
"cds_length": 654,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1492A>G",
"hgvs_p": "p.Ile498Val",
"transcript": "XM_011539650.2",
"protein_id": "XP_011537952.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 582,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Ile491Val",
"transcript": "XM_011539651.2",
"protein_id": "XP_011537953.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 575,
"cds_start": 1471,
"cds_end": null,
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"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Ile410Val",
"transcript": "XM_011539657.2",
"protein_id": "XP_011537959.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 494,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Ile410Val",
"transcript": "XM_024447942.2",
"protein_id": "XP_024303710.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 494,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Ile410Val",
"transcript": "XM_047425087.1",
"protein_id": "XP_047281043.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 494,
"cds_start": 1228,
"cds_end": null,
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"cdna_start": 1444,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1216A>G",
"hgvs_p": "p.Ile406Val",
"transcript": "XM_011539654.2",
"protein_id": "XP_011537956.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 490,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 2157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1207A>G",
"hgvs_p": "p.Ile403Val",
"transcript": "XM_024447943.2",
"protein_id": "XP_024303711.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 487,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1207A>G",
"hgvs_p": "p.Ile403Val",
"transcript": "XM_047425088.1",
"protein_id": "XP_047281044.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 487,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Ile399Val",
"transcript": "XM_011539655.2",
"protein_id": "XP_011537957.1",
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"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010877072811126709,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.0929,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.457,
"phylop100way_prediction": "Benign",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000370162.8",
"gene_symbol": "POLL",
"hgnc_id": 9184,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Ile491Val"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000470165.1",
"gene_symbol": "DPCD",
"hgnc_id": 24542,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.191-350T>C",
"hgvs_p": null
}
],
"clinvar_disease": "POLL-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "POLL-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}