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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: 10-53822439-CAGGAGCAGG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=53822439&ref=CAGGAGCAGG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 53822439,
"ref": "CAGGAGCAGG",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000644397.2",
"consequences": [
{
"aa_ref": "PAP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5278_5286delCCTGCTCCT",
"hgvs_p": "p.Pro1760_Pro1762del",
"transcript": "NM_033056.4",
"protein_id": "NP_149045.3",
"transcript_support_level": null,
"aa_start": 1760,
"aa_end": null,
"aa_length": 1955,
"cds_start": 5278,
"cds_end": null,
"cds_length": 5868,
"cdna_start": 5621,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": "ENST00000320301.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5278_5286delCCTGCTCCT",
"hgvs_p": "p.Pro1760_Pro1762del",
"transcript": "ENST00000320301.11",
"protein_id": "ENSP00000322604.6",
"transcript_support_level": 1,
"aa_start": 1760,
"aa_end": null,
"aa_length": 1955,
"cds_start": 5278,
"cds_end": null,
"cds_length": 5868,
"cdna_start": 5621,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": "NM_033056.4",
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "n.2297_2305delCCTGCTCCT",
"hgvs_p": null,
"transcript": "ENST00000463095.2",
"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": 3469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4368-2218_4368-2210delCCTGCTCCT",
"hgvs_p": null,
"transcript": "NM_001384140.1",
"protein_id": "NP_001371069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1740,
"cds_start": -4,
"cds_end": null,
"cds_length": 5223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "ENST00000644397.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4368-2218_4368-2210delCCTGCTCCT",
"hgvs_p": null,
"transcript": "ENST00000644397.2",
"protein_id": "ENSP00000495195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1740,
"cds_start": -4,
"cds_end": null,
"cds_length": 5223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "NM_001384140.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4388+4945_4388+4953delCCTGCTCCT",
"hgvs_p": null,
"transcript": "ENST00000395445.6",
"protein_id": "ENSP00000378832.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1783,
"cds_start": -4,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4367+4945_4367+4953delCCTGCTCCT",
"hgvs_p": null,
"transcript": "ENST00000616114.4",
"protein_id": "ENSP00000483745.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1675,
"cds_start": -4,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5299_5307delCCTGCTCCT",
"hgvs_p": "p.Pro1767_Pro1769del",
"transcript": "NM_001142763.2",
"protein_id": "NP_001136235.1",
"transcript_support_level": null,
"aa_start": 1767,
"aa_end": null,
"aa_length": 1962,
"cds_start": 5299,
"cds_end": null,
"cds_length": 5889,
"cdna_start": 5642,
"cdna_end": null,
"cdna_length": 6983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5299_5307delCCTGCTCCT",
"hgvs_p": "p.Pro1767_Pro1769del",
"transcript": "ENST00000373957.7",
"protein_id": "ENSP00000363068.4",
"transcript_support_level": 5,
"aa_start": 1767,
"aa_end": null,
"aa_length": 1962,
"cds_start": 5299,
"cds_end": null,
"cds_length": 5889,
"cdna_start": 5702,
"cdna_end": null,
"cdna_length": 7032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5284_5292delCCTGCTCCT",
"hgvs_p": "p.Pro1762_Pro1764del",
"transcript": "NM_001142764.2",
"protein_id": "NP_001136236.1",
"transcript_support_level": null,
"aa_start": 1762,
"aa_end": null,
"aa_length": 1957,
"cds_start": 5284,
"cds_end": null,
"cds_length": 5874,
"cdna_start": 5627,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5284_5292delCCTGCTCCT",
"hgvs_p": "p.Pro1762_Pro1764del",
"transcript": "ENST00000361849.7",
"protein_id": "ENSP00000354950.3",
"transcript_support_level": 5,
"aa_start": 1762,
"aa_end": null,
"aa_length": 1957,
"cds_start": 5284,
"cds_end": null,
"cds_length": 5874,
"cdna_start": 5687,
"cdna_end": null,
"cdna_length": 7017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5269_5277delCCTGCTCCT",
"hgvs_p": "p.Pro1757_Pro1759del",
"transcript": "NM_001142766.2",
"protein_id": "NP_001136238.1",
"transcript_support_level": null,
"aa_start": 1757,
"aa_end": null,
"aa_length": 1952,
"cds_start": 5269,
"cds_end": null,
"cds_length": 5859,
"cdna_start": 5612,
"cdna_end": null,
"cdna_length": 6953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5269_5277delCCTGCTCCT",
"hgvs_p": "p.Pro1757_Pro1759del",
"transcript": "ENST00000395430.5",
"protein_id": "ENSP00000378818.1",
"transcript_support_level": 5,
"aa_start": 1757,
"aa_end": null,
"aa_length": 1952,
"cds_start": 5269,
"cds_end": null,
"cds_length": 5859,
"cdna_start": 5672,
"cdna_end": null,
"cdna_length": 7002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5218_5226delCCTGCTCCT",
"hgvs_p": "p.Pro1740_Pro1742del",
"transcript": "NM_001142768.2",
"protein_id": "NP_001136240.1",
"transcript_support_level": null,
"aa_start": 1740,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5218,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 5561,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5212_5220delCCTGCTCCT",
"hgvs_p": "p.Pro1738_Pro1740del",
"transcript": "NM_001354404.2",
"protein_id": "NP_001341333.1",
"transcript_support_level": null,
"aa_start": 1738,
"aa_end": null,
"aa_length": 1933,
"cds_start": 5212,
"cds_end": null,
"cds_length": 5802,
"cdna_start": 5582,
"cdna_end": null,
"cdna_length": 6923,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5209_5217delCCTGCTCCT",
"hgvs_p": "p.Pro1737_Pro1739del",
"transcript": "NM_001142773.2",
"protein_id": "NP_001136245.1",
"transcript_support_level": null,
"aa_start": 1737,
"aa_end": null,
"aa_length": 1932,
"cds_start": 5209,
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"cdna_start": 5552,
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"cdna_length": 6893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5209_5217delCCTGCTCCT",
"hgvs_p": "p.Pro1737_Pro1739del",
"transcript": "ENST00000395433.5",
"protein_id": "ENSP00000378821.1",
"transcript_support_level": 5,
"aa_start": 1737,
"aa_end": null,
"aa_length": 1932,
"cds_start": 5209,
"cds_end": null,
"cds_length": 5799,
"cdna_start": 5612,
"cdna_end": null,
"cdna_length": 6942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5158_5166delCCTGCTCCT",
"hgvs_p": "p.Pro1720_Pro1722del",
"transcript": "NM_001142767.2",
"protein_id": "NP_001136239.1",
"transcript_support_level": null,
"aa_start": 1720,
"aa_end": null,
"aa_length": 1915,
"cds_start": 5158,
"cds_end": null,
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"cdna_start": 5501,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5071_5079delCCTGCTCCT",
"hgvs_p": "p.Pro1691_Pro1693del",
"transcript": "NM_001142765.2",
"protein_id": "NP_001136237.1",
"transcript_support_level": null,
"aa_start": 1691,
"aa_end": null,
"aa_length": 1886,
"cds_start": 5071,
"cds_end": null,
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"cdna_start": 5414,
"cdna_end": null,
"cdna_length": 6755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.5071_5079delCCTGCTCCT",
"hgvs_p": "p.Pro1691_Pro1693del",
"transcript": "ENST00000437009.5",
"protein_id": "ENSP00000412628.2",
"transcript_support_level": 5,
"aa_start": 1691,
"aa_end": null,
"aa_length": 1886,
"cds_start": 5071,
"cds_end": null,
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"cdna_start": 5474,
"cdna_end": null,
"cdna_length": 6804,
"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": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "n.*3233_*3241delCCTGCTCCT",
"hgvs_p": null,
"transcript": "ENST00000373956.7",
"protein_id": "ENSP00000363067.4",
"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": 6931,
"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": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "n.*3239_*3247delCCTGCTCCT",
"hgvs_p": null,
"transcript": "ENST00000448885.5",
"protein_id": "ENSP00000412320.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"hom_count_reference_population": 0,
"allele_count_reference_population": 349,
"gnomad_exomes_af": 0.000123816,
"gnomad_genomes_af": 0.00114209,
"gnomad_exomes_ac": 178,
"gnomad_genomes_ac": 171,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.455,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000644397.2",
"gene_symbol": "PCDH15",
"hgnc_id": 14674,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4368-2218_4368-2210delCCTGCTCCT",
"hgvs_p": null
}
],
"clinvar_disease": "PCDH15-related disorder,Usher syndrome type 1F,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5",
"phenotype_combined": "not specified|Usher syndrome type 1F|not provided|PCDH15-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}