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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: 2-55289187-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=55289187&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 55289187,
"ref": "T",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "NM_001365480.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.*2013A>G",
"hgvs_p": null,
"transcript": "NM_001365480.1",
"protein_id": "NP_001352409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1871,
"cds_start": null,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": "ENST00000436346.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365480.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.*2013A>G",
"hgvs_p": null,
"transcript": "ENST00000436346.7",
"protein_id": "ENSP00000410608.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1871,
"cds_start": null,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": "NM_001365480.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436346.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.*2013A>G",
"hgvs_p": null,
"transcript": "ENST00000336838.10",
"protein_id": "ENSP00000338728.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1870,
"cds_start": null,
"cds_end": null,
"cds_length": 5613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336838.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.*2013A>G",
"hgvs_p": null,
"transcript": "ENST00000263630.13",
"protein_id": "ENSP00000263630.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1843,
"cds_start": null,
"cds_end": null,
"cds_length": 5532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263630.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.*2013A>G",
"hgvs_p": null,
"transcript": "ENST00000413716.7",
"protein_id": "ENSP00000404431.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1797,
"cds_start": null,
"cds_end": null,
"cds_length": 5394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413716.7"
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.*36-832A>G",
"hgvs_p": null,
"transcript": "ENST00000412148.6",
"protein_id": "ENSP00000390012.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 888,
"cds_start": null,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412148.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.*2013A>G",
"hgvs_p": null,
"transcript": "NM_001135597.2",
"protein_id": "NP_001129069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1870,
"cds_start": null,
"cds_end": null,
"cds_length": 5613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135597.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.*2524A>G",
"hgvs_p": null,
"transcript": "ENST00000935827.1",
"protein_id": "ENSP00000605886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1870,
"cds_start": null,
"cds_end": null,
"cds_length": 5613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.*2013A>G",
"hgvs_p": null,
"transcript": "NM_018084.5",
"protein_id": "NP_060554.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1843,
"cds_start": null,
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"cds_length": 5532,
"cdna_start": null,
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"cdna_length": 9667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018084.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.*2013A>G",
"hgvs_p": null,
"transcript": "ENST00000935825.1",
"protein_id": "ENSP00000605884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1843,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 9778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935825.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.*2524A>G",
"hgvs_p": null,
"transcript": "ENST00000935826.1",
"protein_id": "ENSP00000605885.1",
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
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"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "CCDC88A",
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"hgvs_c": "c.*2013A>G",
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"transcript": "ENST00000643413.1",
"protein_id": "ENSP00000494811.1",
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
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"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "CCDC88A",
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"hgvs_c": "c.*2013A>G",
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"transcript": "NM_001254943.2",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "CCDC88A",
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},
{
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"3_prime_UTR_variant"
],
"exon_rank": 18,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "CCDC88A",
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"hgvs_c": "c.*2013A>G",
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"transcript": "ENST00000647396.1",
"protein_id": "ENSP00000496591.1",
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},
{
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],
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},
{
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],
"exon_rank": 19,
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "CCDC88A",
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"hgvs_c": "c.*2013A>G",
"hgvs_p": null,
"transcript": "ENST00000644512.1",
"protein_id": "ENSP00000495933.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "CCDC88A",
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"hgvs_c": "c.*2013A>G",
"hgvs_p": null,
"transcript": "ENST00000643375.1",
"protein_id": "ENSP00000494876.1",
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},
{
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],
"exon_rank": 7,
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"intron_rank": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 32,
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"gene_symbol": "CCDC88A",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
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"hgvs_c": "c.*36-832A>G",
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"transcript": "ENST00000935824.1",
"protein_id": "ENSP00000605883.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000935824.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.*36-832A>G",
"hgvs_p": null,
"transcript": "ENST00000647547.1",
"protein_id": "ENSP00000493675.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000647547.1"
},
{
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"canonical": false,
"protein_coding": false,
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}
],
"message": null
}