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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: 10-54378939-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=54378939&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 54378939,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000644397.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "NM_033056.4",
"protein_id": "NP_149045.3",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1955,
"cds_start": 161,
"cds_end": null,
"cds_length": 5868,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": "ENST00000320301.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "ENST00000320301.11",
"protein_id": "ENSP00000322604.6",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 1955,
"cds_start": 161,
"cds_end": null,
"cds_length": 5868,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": "NM_033056.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "NM_001384140.1",
"protein_id": "NP_001371069.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1740,
"cds_start": 161,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "ENST00000644397.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "ENST00000644397.2",
"protein_id": "ENSP00000495195.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1740,
"cds_start": 161,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "NM_001384140.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "ENST00000395445.6",
"protein_id": "ENSP00000378832.2",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 1783,
"cds_start": 161,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "ENST00000616114.4",
"protein_id": "ENSP00000483745.1",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 1675,
"cds_start": 161,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "ENST00000373955.5",
"protein_id": "ENSP00000363066.1",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 961,
"cds_start": 161,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 4230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "NM_001142763.2",
"protein_id": "NP_001136235.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 1962,
"cds_start": 176,
"cds_end": null,
"cds_length": 5889,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 6983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "ENST00000373957.7",
"protein_id": "ENSP00000363068.4",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 1962,
"cds_start": 176,
"cds_end": null,
"cds_length": 5889,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 7032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "NM_001142764.2",
"protein_id": "NP_001136236.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1957,
"cds_start": 161,
"cds_end": null,
"cds_length": 5874,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "ENST00000361849.7",
"protein_id": "ENSP00000354950.3",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 1957,
"cds_start": 161,
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"cds_length": 5874,
"cdna_start": 556,
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"cdna_length": 7017,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "NM_001142766.2",
"protein_id": "NP_001136238.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1952,
"cds_start": 161,
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"cds_length": 5859,
"cdna_start": 496,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "ENST00000395430.5",
"protein_id": "ENSP00000378818.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 1952,
"cds_start": 161,
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"cdna_start": 556,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
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"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Thr32Ile",
"transcript": "NM_001142768.2",
"protein_id": "NP_001136240.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
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"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Thr32Ile",
"transcript": "NM_001354404.2",
"protein_id": "NP_001341333.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 1933,
"cds_start": 95,
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"cdna_start": 457,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Thr32Ile",
"transcript": "NM_001142773.2",
"protein_id": "NP_001136245.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Thr32Ile",
"transcript": "ENST00000395433.5",
"protein_id": "ENSP00000378821.1",
"transcript_support_level": 5,
"aa_start": 32,
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"aa_length": 1932,
"cds_start": 95,
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"cdna_start": 490,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "NM_001142767.2",
"protein_id": "NP_001136239.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1915,
"cds_start": 161,
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"feature": null
},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "NM_001142765.2",
"protein_id": "NP_001136237.1",
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"feature": null
},
{
"aa_ref": "T",
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"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile",
"transcript": "ENST00000437009.5",
"protein_id": "ENSP00000412628.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"intron_rank": null,
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"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "NM_001142769.3",
"protein_id": "NP_001136241.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 1790,
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"cdna_start": 511,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "ENST00000613657.6",
"protein_id": "ENSP00000482794.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 1790,
"cds_start": 176,
"cds_end": null,
"cds_length": 5373,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
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],
"inheritance_mode": "AR",
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Ile"
}
],
"clinvar_disease": "PCDH15-related disorder,Usher syndrome type 1F,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not specified|Usher syndrome type 1F|not provided|PCDH15-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}