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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: 10-53938830-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=53938830&ref=G&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "10",
"pos": 53938830,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000644397.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3358C>T",
"hgvs_p": "p.Arg1120*",
"transcript": "NM_033056.4",
"protein_id": "NP_149045.3",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1955,
"cds_start": 3358,
"cds_end": null,
"cds_length": 5868,
"cdna_start": 3693,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": "ENST00000320301.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3358C>T",
"hgvs_p": "p.Arg1120*",
"transcript": "ENST00000320301.11",
"protein_id": "ENSP00000322604.6",
"transcript_support_level": 1,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1955,
"cds_start": 3358,
"cds_end": null,
"cds_length": 5868,
"cdna_start": 3693,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": "NM_033056.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3358C>T",
"hgvs_p": "p.Arg1120*",
"transcript": "NM_001384140.1",
"protein_id": "NP_001371069.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1740,
"cds_start": 3358,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 3693,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "ENST00000644397.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3358C>T",
"hgvs_p": "p.Arg1120*",
"transcript": "ENST00000644397.2",
"protein_id": "ENSP00000495195.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1740,
"cds_start": 3358,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 3693,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "NM_001384140.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3379C>T",
"hgvs_p": "p.Arg1127*",
"transcript": "ENST00000395445.6",
"protein_id": "ENSP00000378832.2",
"transcript_support_level": 1,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1783,
"cds_start": 3379,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 3714,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3358C>T",
"hgvs_p": "p.Arg1120*",
"transcript": "ENST00000616114.4",
"protein_id": "ENSP00000483745.1",
"transcript_support_level": 1,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1675,
"cds_start": 3358,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3373C>T",
"hgvs_p": "p.Arg1125*",
"transcript": "NM_001142763.2",
"protein_id": "NP_001136235.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1962,
"cds_start": 3373,
"cds_end": null,
"cds_length": 5889,
"cdna_start": 3708,
"cdna_end": null,
"cdna_length": 6983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3373C>T",
"hgvs_p": "p.Arg1125*",
"transcript": "ENST00000373957.7",
"protein_id": "ENSP00000363068.4",
"transcript_support_level": 5,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1962,
"cds_start": 3373,
"cds_end": null,
"cds_length": 5889,
"cdna_start": 3768,
"cdna_end": null,
"cdna_length": 7032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3358C>T",
"hgvs_p": "p.Arg1120*",
"transcript": "NM_001142764.2",
"protein_id": "NP_001136236.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1957,
"cds_start": 3358,
"cds_end": null,
"cds_length": 5874,
"cdna_start": 3693,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3358C>T",
"hgvs_p": "p.Arg1120*",
"transcript": "ENST00000361849.7",
"protein_id": "ENSP00000354950.3",
"transcript_support_level": 5,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1957,
"cds_start": 3358,
"cds_end": null,
"cds_length": 5874,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 7017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3358C>T",
"hgvs_p": "p.Arg1120*",
"transcript": "NM_001142766.2",
"protein_id": "NP_001136238.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1952,
"cds_start": 3358,
"cds_end": null,
"cds_length": 5859,
"cdna_start": 3693,
"cdna_end": null,
"cdna_length": 6953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3358C>T",
"hgvs_p": "p.Arg1120*",
"transcript": "ENST00000395430.5",
"protein_id": "ENSP00000378818.1",
"transcript_support_level": 5,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1952,
"cds_start": 3358,
"cds_end": null,
"cds_length": 5859,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 7002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3292C>T",
"hgvs_p": "p.Arg1098*",
"transcript": "NM_001142768.2",
"protein_id": "NP_001136240.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1935,
"cds_start": 3292,
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"cds_length": 5808,
"cdna_start": 3627,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3292C>T",
"hgvs_p": "p.Arg1098*",
"transcript": "NM_001354404.2",
"protein_id": "NP_001341333.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1933,
"cds_start": 3292,
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"cdna_start": 3654,
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"cdna_length": 6923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3292C>T",
"hgvs_p": "p.Arg1098*",
"transcript": "NM_001142773.2",
"protein_id": "NP_001136245.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1932,
"cds_start": 3292,
"cds_end": null,
"cds_length": 5799,
"cdna_start": 3627,
"cdna_end": null,
"cdna_length": 6893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3292C>T",
"hgvs_p": "p.Arg1098*",
"transcript": "ENST00000395433.5",
"protein_id": "ENSP00000378821.1",
"transcript_support_level": 5,
"aa_start": 1098,
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"cds_start": 3292,
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"cdna_start": 3687,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083*",
"transcript": "NM_001142767.2",
"protein_id": "NP_001136239.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1915,
"cds_start": 3247,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 3582,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3145C>T",
"hgvs_p": "p.Arg1049*",
"transcript": "NM_001142765.2",
"protein_id": "NP_001136237.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1886,
"cds_start": 3145,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 3480,
"cdna_end": null,
"cdna_length": 6755,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3145C>T",
"hgvs_p": "p.Arg1049*",
"transcript": "ENST00000437009.5",
"protein_id": "ENSP00000412628.2",
"transcript_support_level": 5,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1886,
"cds_start": 3145,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3394C>T",
"hgvs_p": "p.Arg1132*",
"transcript": "NM_001142769.3",
"protein_id": "NP_001136241.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1790,
"cds_start": 3394,
"cds_end": null,
"cds_length": 5373,
"cdna_start": 3729,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3394C>T",
"hgvs_p": "p.Arg1132*",
"transcript": "ENST00000613657.6",
"protein_id": "ENSP00000482794.1",
"transcript_support_level": 5,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1790,
"cds_start": 3394,
"cds_end": null,
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"cdna_start": 3729,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3379C>T",
"hgvs_p": "p.Arg1127*",
"transcript": "NM_001354411.2",
"protein_id": "NP_001341340.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1783,
"cds_start": 3379,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 3714,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "Rare genetic deafness|not provided|Usher syndrome type 1F|Autosomal recessive nonsyndromic hearing loss 23|Autosomal recessive nonsyndromic hearing loss 23;Usher syndrome type 1D;Usher syndrome type 1F|PCDH15-related disorder",
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"custom_annotations": null
}
],
"message": null
}