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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: 16-14447011-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=14447011&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 14447011,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000437198.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1741G>A",
"hgvs_p": "p.Gly581Arg",
"transcript": "NM_002582.4",
"protein_id": "NP_002573.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 639,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": "ENST00000437198.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1741G>A",
"hgvs_p": "p.Gly581Arg",
"transcript": "ENST00000437198.7",
"protein_id": "ENSP00000387911.2",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 639,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": "NM_002582.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1816G>A",
"hgvs_p": "p.Gly606Arg",
"transcript": "ENST00000650990.1",
"protein_id": "ENSP00000498741.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 664,
"cds_start": 1816,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1741G>A",
"hgvs_p": "p.Gly581Arg",
"transcript": "ENST00000697474.1",
"protein_id": "ENSP00000513329.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 659,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1666G>A",
"hgvs_p": "p.Gly556Arg",
"transcript": "ENST00000651865.1",
"protein_id": "ENSP00000498567.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 614,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Gly535Arg",
"transcript": "NM_001242992.2",
"protein_id": "NP_001229921.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 593,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Gly535Arg",
"transcript": "ENST00000420015.6",
"protein_id": "ENSP00000410525.2",
"transcript_support_level": 2,
"aa_start": 535,
"aa_end": null,
"aa_length": 593,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1567G>A",
"hgvs_p": "p.Gly523Arg",
"transcript": "ENST00000652727.1",
"protein_id": "ENSP00000498650.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 581,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Gly520Arg",
"transcript": "NM_001134477.3",
"protein_id": "NP_001127949.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 578,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Gly520Arg",
"transcript": "ENST00000341484.11",
"protein_id": "ENSP00000345456.7",
"transcript_support_level": 2,
"aa_start": 520,
"aa_end": null,
"aa_length": 578,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Gly406Arg",
"transcript": "ENST00000539279.5",
"protein_id": "ENSP00000444381.1",
"transcript_support_level": 2,
"aa_start": 406,
"aa_end": null,
"aa_length": 464,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 1557,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.398G>A",
"hgvs_p": null,
"transcript": "ENST00000564882.5",
"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": 452,
"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": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.*1548G>A",
"hgvs_p": null,
"transcript": "ENST00000651300.1",
"protein_id": "ENSP00000498294.1",
"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,
"cdna_end": null,
"cdna_length": 2706,
"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": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.*812G>A",
"hgvs_p": null,
"transcript": "ENST00000651348.1",
"protein_id": "ENSP00000498315.1",
"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": 2983,
"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": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.*2780G>A",
"hgvs_p": null,
"transcript": "ENST00000651760.1",
"protein_id": "ENSP00000498642.1",
"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,
"cdna_end": null,
"cdna_length": 3912,
"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": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.*517G>A",
"hgvs_p": null,
"transcript": "ENST00000652051.1",
"protein_id": "ENSP00000498898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.*266G>A",
"hgvs_p": null,
"transcript": "ENST00000652066.1",
"protein_id": "ENSP00000499051.1",
"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,
"cdna_end": null,
"cdna_length": 2565,
"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": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.*1573G>A",
"hgvs_p": null,
"transcript": "ENST00000652541.1",
"protein_id": "ENSP00000499206.1",
"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,
"cdna_end": null,
"cdna_length": 2870,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.2192G>A",
"hgvs_p": null,
"transcript": "ENST00000697471.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"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": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.1782G>A",
"hgvs_p": null,
"transcript": "ENST00000697472.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.3343G>A",
"hgvs_p": null,
"transcript": "ENST00000697473.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.16629G>A",
"hgvs_p": null,
"transcript": "XR_007064881.1",
"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,
"cdna_end": null,
"cdna_length": 17824,
"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": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.16065G>A",
"hgvs_p": null,
"transcript": "XR_007064882.1",
"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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],
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"computational_score_selected": 0.0018527507781982422,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000437198.7",
"gene_symbol": "PARN",
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"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1741G>A",
"hgvs_p": "p.Gly581Arg"
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],
"clinvar_disease": " 4, Telomere-related, autosomal recessive 6,Dyskeratosis congenita,Pulmonary fibrosis and/or bone marrow failure,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}