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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: 10-53822352-GAGGAAGAGGA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=53822352&ref=GAGGAAGAGGA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 53822352,
"ref": "GAGGAAGAGGA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_001142763.2",
"consequences": [
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.5364_5373delTCCTCTTCCT",
"hgvs_p": "p.Pro1789fs",
"transcript": "NM_033056.4",
"protein_id": "NP_149045.3",
"transcript_support_level": null,
"aa_start": 1788,
"aa_end": null,
"aa_length": 1955,
"cds_start": 5364,
"cds_end": null,
"cds_length": 5868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000320301.11",
"biotype": "protein_coding",
"feature": "NM_033056.4"
},
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.5364_5373delTCCTCTTCCT",
"hgvs_p": "p.Pro1789fs",
"transcript": "ENST00000320301.11",
"protein_id": "ENSP00000322604.6",
"transcript_support_level": 1,
"aa_start": 1788,
"aa_end": null,
"aa_length": 1955,
"cds_start": 5364,
"cds_end": null,
"cds_length": 5868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_033056.4",
"biotype": "protein_coding",
"feature": "ENST00000320301.11"
},
{
"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.4368-2132_4368-2123delTCCTCTTCCT",
"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": null,
"cds_end": null,
"cds_length": 5223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644397.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384140.1"
},
{
"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.4368-2132_4368-2123delTCCTCTTCCT",
"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": null,
"cds_end": null,
"cds_length": 5223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001384140.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644397.2"
},
{
"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+5031_4388+5040delTCCTCTTCCT",
"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": null,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395445.6"
},
{
"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+5031_4367+5040delTCCTCTTCCT",
"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": null,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616114.4"
},
{
"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.2383_2392delTCCTCTTCCT",
"hgvs_p": null,
"transcript": "ENST00000463095.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463095.2"
},
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"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.5385_5394delTCCTCTTCCT",
"hgvs_p": "p.Pro1796fs",
"transcript": "NM_001142763.2",
"protein_id": "NP_001136235.1",
"transcript_support_level": null,
"aa_start": 1795,
"aa_end": null,
"aa_length": 1962,
"cds_start": 5385,
"cds_end": null,
"cds_length": 5889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142763.2"
},
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"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.5385_5394delTCCTCTTCCT",
"hgvs_p": "p.Pro1796fs",
"transcript": "ENST00000373957.7",
"protein_id": "ENSP00000363068.4",
"transcript_support_level": 5,
"aa_start": 1795,
"aa_end": null,
"aa_length": 1962,
"cds_start": 5385,
"cds_end": null,
"cds_length": 5889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373957.7"
},
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"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.5370_5379delTCCTCTTCCT",
"hgvs_p": "p.Pro1791fs",
"transcript": "NM_001142764.2",
"protein_id": "NP_001136236.1",
"transcript_support_level": null,
"aa_start": 1790,
"aa_end": null,
"aa_length": 1957,
"cds_start": 5370,
"cds_end": null,
"cds_length": 5874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142764.2"
},
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"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.5370_5379delTCCTCTTCCT",
"hgvs_p": "p.Pro1791fs",
"transcript": "ENST00000361849.7",
"protein_id": "ENSP00000354950.3",
"transcript_support_level": 5,
"aa_start": 1790,
"aa_end": null,
"aa_length": 1957,
"cds_start": 5370,
"cds_end": null,
"cds_length": 5874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361849.7"
},
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.5355_5364delTCCTCTTCCT",
"hgvs_p": "p.Pro1786fs",
"transcript": "NM_001142766.2",
"protein_id": "NP_001136238.1",
"transcript_support_level": null,
"aa_start": 1785,
"aa_end": null,
"aa_length": 1952,
"cds_start": 5355,
"cds_end": null,
"cds_length": 5859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142766.2"
},
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.5355_5364delTCCTCTTCCT",
"hgvs_p": "p.Pro1786fs",
"transcript": "ENST00000395430.5",
"protein_id": "ENSP00000378818.1",
"transcript_support_level": 5,
"aa_start": 1785,
"aa_end": null,
"aa_length": 1952,
"cds_start": 5355,
"cds_end": null,
"cds_length": 5859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395430.5"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.5304_5313delTCCTCTTCCT",
"hgvs_p": "p.Pro1769fs",
"transcript": "NM_001142768.2",
"protein_id": "NP_001136240.1",
"transcript_support_level": null,
"aa_start": 1768,
"aa_end": null,
"aa_length": 1935,
"cds_start": 5304,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142768.2"
},
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"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.5298_5307delTCCTCTTCCT",
"hgvs_p": "p.Pro1767fs",
"transcript": "NM_001354404.2",
"protein_id": "NP_001341333.1",
"transcript_support_level": null,
"aa_start": 1766,
"aa_end": null,
"aa_length": 1933,
"cds_start": 5298,
"cds_end": null,
"cds_length": 5802,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354404.2"
},
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.5295_5304delTCCTCTTCCT",
"hgvs_p": "p.Pro1766fs",
"transcript": "NM_001142773.2",
"protein_id": "NP_001136245.1",
"transcript_support_level": null,
"aa_start": 1765,
"aa_end": null,
"aa_length": 1932,
"cds_start": 5295,
"cds_end": null,
"cds_length": 5799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142773.2"
},
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.5295_5304delTCCTCTTCCT",
"hgvs_p": "p.Pro1766fs",
"transcript": "ENST00000395433.5",
"protein_id": "ENSP00000378821.1",
"transcript_support_level": 5,
"aa_start": 1765,
"aa_end": null,
"aa_length": 1932,
"cds_start": 5295,
"cds_end": null,
"cds_length": 5799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395433.5"
},
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"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.5244_5253delTCCTCTTCCT",
"hgvs_p": "p.Pro1749fs",
"transcript": "NM_001142767.2",
"protein_id": "NP_001136239.1",
"transcript_support_level": null,
"aa_start": 1748,
"aa_end": null,
"aa_length": 1915,
"cds_start": 5244,
"cds_end": null,
"cds_length": 5748,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142767.2"
},
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.5157_5166delTCCTCTTCCT",
"hgvs_p": "p.Pro1720fs",
"transcript": "NM_001142765.2",
"protein_id": "NP_001136237.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 1886,
"cds_start": 5157,
"cds_end": null,
"cds_length": 5661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142765.2"
},
{
"aa_ref": "LPLP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.5157_5166delTCCTCTTCCT",
"hgvs_p": "p.Pro1720fs",
"transcript": "ENST00000437009.5",
"protein_id": "ENSP00000412628.2",
"transcript_support_level": 5,
"aa_start": 1719,
"aa_end": null,
"aa_length": 1886,
"cds_start": 5157,
"cds_end": null,
"cds_length": 5661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437009.5"
},
{
"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": 37,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4409+2774_4409+2783delTCCTCTTCCT",
"hgvs_p": null,
"transcript": "NM_001142769.3",
"protein_id": "NP_001136241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1790,
"cds_start": null,
"cds_end": null,
"cds_length": 5373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142769.3"
},
{
"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": 37,
"intron_rank": 35,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448885.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "n.*447+5031_*447+5040delTCCTCTTCCT",
"hgvs_p": null,
"transcript": "ENST00000414367.5",
"protein_id": "ENSP00000412531.1",
"transcript_support_level": 5,
"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": "ENST00000414367.5"
}
],
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"dbsnp": "rs753690225",
"frequency_reference_population": 0.000012662908,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000133072,
"gnomad_genomes_af": 0.00000659544,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 1,
"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": 3.656,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001142763.2",
"gene_symbol": "PCDH15",
"hgnc_id": 14674,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5385_5394delTCCTCTTCCT",
"hgvs_p": "p.Pro1796fs"
}
],
"clinvar_disease": "Retinal dystrophy,Usher syndrome type 1F,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 LB:1",
"phenotype_combined": "Retinal dystrophy|Usher syndrome type 1F|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}