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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: 10-53831414-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=53831414&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 53831414,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000644397.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4103A>G",
"hgvs_p": "p.Glu1368Gly",
"transcript": "NM_033056.4",
"protein_id": "NP_149045.3",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1955,
"cds_start": 4103,
"cds_end": null,
"cds_length": 5868,
"cdna_start": 4438,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": "ENST00000320301.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4103A>G",
"hgvs_p": "p.Glu1368Gly",
"transcript": "ENST00000320301.11",
"protein_id": "ENSP00000322604.6",
"transcript_support_level": 1,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1955,
"cds_start": 4103,
"cds_end": null,
"cds_length": 5868,
"cdna_start": 4438,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": "NM_033056.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4103A>G",
"hgvs_p": "p.Glu1368Gly",
"transcript": "NM_001384140.1",
"protein_id": "NP_001371069.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1740,
"cds_start": 4103,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 4438,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "ENST00000644397.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4103A>G",
"hgvs_p": "p.Glu1368Gly",
"transcript": "ENST00000644397.2",
"protein_id": "ENSP00000495195.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1740,
"cds_start": 4103,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 4438,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "NM_001384140.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4124A>G",
"hgvs_p": "p.Glu1375Gly",
"transcript": "ENST00000395445.6",
"protein_id": "ENSP00000378832.2",
"transcript_support_level": 1,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4124,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 4459,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4103A>G",
"hgvs_p": "p.Glu1368Gly",
"transcript": "ENST00000616114.4",
"protein_id": "ENSP00000483745.1",
"transcript_support_level": 1,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1675,
"cds_start": 4103,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 4498,
"cdna_end": null,
"cdna_length": 5846,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "n.1122A>G",
"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": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4118A>G",
"hgvs_p": "p.Glu1373Gly",
"transcript": "NM_001142763.2",
"protein_id": "NP_001136235.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1962,
"cds_start": 4118,
"cds_end": null,
"cds_length": 5889,
"cdna_start": 4453,
"cdna_end": null,
"cdna_length": 6983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4118A>G",
"hgvs_p": "p.Glu1373Gly",
"transcript": "ENST00000373957.7",
"protein_id": "ENSP00000363068.4",
"transcript_support_level": 5,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1962,
"cds_start": 4118,
"cds_end": null,
"cds_length": 5889,
"cdna_start": 4513,
"cdna_end": null,
"cdna_length": 7032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4103A>G",
"hgvs_p": "p.Glu1368Gly",
"transcript": "NM_001142764.2",
"protein_id": "NP_001136236.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1957,
"cds_start": 4103,
"cds_end": null,
"cds_length": 5874,
"cdna_start": 4438,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4103A>G",
"hgvs_p": "p.Glu1368Gly",
"transcript": "ENST00000361849.7",
"protein_id": "ENSP00000354950.3",
"transcript_support_level": 5,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1957,
"cds_start": 4103,
"cds_end": null,
"cds_length": 5874,
"cdna_start": 4498,
"cdna_end": null,
"cdna_length": 7017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4103A>G",
"hgvs_p": "p.Glu1368Gly",
"transcript": "NM_001142766.2",
"protein_id": "NP_001136238.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1952,
"cds_start": 4103,
"cds_end": null,
"cds_length": 5859,
"cdna_start": 4438,
"cdna_end": null,
"cdna_length": 6953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4103A>G",
"hgvs_p": "p.Glu1368Gly",
"transcript": "ENST00000395430.5",
"protein_id": "ENSP00000378818.1",
"transcript_support_level": 5,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1952,
"cds_start": 4103,
"cds_end": null,
"cds_length": 5859,
"cdna_start": 4498,
"cdna_end": null,
"cdna_length": 7002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4037A>G",
"hgvs_p": "p.Glu1346Gly",
"transcript": "NM_001142768.2",
"protein_id": "NP_001136240.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1935,
"cds_start": 4037,
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"cds_length": 5808,
"cdna_start": 4372,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4037A>G",
"hgvs_p": "p.Glu1346Gly",
"transcript": "NM_001354404.2",
"protein_id": "NP_001341333.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1933,
"cds_start": 4037,
"cds_end": null,
"cds_length": 5802,
"cdna_start": 4399,
"cdna_end": null,
"cdna_length": 6923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4037A>G",
"hgvs_p": "p.Glu1346Gly",
"transcript": "NM_001142773.2",
"protein_id": "NP_001136245.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
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"cds_start": 4037,
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"cdna_start": 4372,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4037A>G",
"hgvs_p": "p.Glu1346Gly",
"transcript": "ENST00000395433.5",
"protein_id": "ENSP00000378821.1",
"transcript_support_level": 5,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1932,
"cds_start": 4037,
"cds_end": null,
"cds_length": 5799,
"cdna_start": 4432,
"cdna_end": null,
"cdna_length": 6942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3992A>G",
"hgvs_p": "p.Glu1331Gly",
"transcript": "NM_001142767.2",
"protein_id": "NP_001136239.1",
"transcript_support_level": null,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1915,
"cds_start": 3992,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 4327,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3890A>G",
"hgvs_p": "p.Glu1297Gly",
"transcript": "NM_001142765.2",
"protein_id": "NP_001136237.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1886,
"cds_start": 3890,
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"cdna_start": 4225,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3890A>G",
"hgvs_p": "p.Glu1297Gly",
"transcript": "ENST00000437009.5",
"protein_id": "ENSP00000412628.2",
"transcript_support_level": 5,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1886,
"cds_start": 3890,
"cds_end": null,
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"cdna_start": 4285,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4139A>G",
"hgvs_p": "p.Glu1380Gly",
"transcript": "NM_001142769.3",
"protein_id": "NP_001136241.1",
"transcript_support_level": null,
"aa_start": 1380,
"aa_end": null,
"aa_length": 1790,
"cds_start": 4139,
"cds_end": null,
"cds_length": 5373,
"cdna_start": 4474,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4139A>G",
"hgvs_p": "p.Glu1380Gly",
"transcript": "ENST00000613657.6",
"protein_id": "ENSP00000482794.1",
"transcript_support_level": 5,
"aa_start": 1380,
"aa_end": null,
"aa_length": 1790,
"cds_start": 4139,
"cds_end": null,
"cds_length": 5373,
"cdna_start": 4474,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
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"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"dbsnp": "rs111033449",
"frequency_reference_population": 0.000116484116,
"hom_count_reference_population": 1,
"allele_count_reference_population": 188,
"gnomad_exomes_af": 0.000111501,
"gnomad_genomes_af": 0.000164385,
"gnomad_exomes_ac": 163,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01961618661880493,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.305,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4791,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.014,
"phylop100way_prediction": "Pathogenic",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000644397.2",
"gene_symbol": "PCDH15",
"hgnc_id": 14674,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4103A>G",
"hgvs_p": "p.Glu1368Gly"
}
],
"clinvar_disease": "Inborn genetic diseases,Usher syndrome type 1,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:2",
"phenotype_combined": "not specified|Usher syndrome type 1|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}