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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: 2-55334505-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=55334505&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 55334505,
"ref": "TA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_001365480.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "NM_001365480.1",
"protein_id": "NP_001352409.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1871,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000436346.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365480.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000436346.7",
"protein_id": "ENSP00000410608.1",
"transcript_support_level": 5,
"aa_start": 772,
"aa_end": null,
"aa_length": 1871,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365480.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436346.7"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000336838.10",
"protein_id": "ENSP00000338728.6",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 1870,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336838.10"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000263630.13",
"protein_id": "ENSP00000263630.8",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 1843,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263630.13"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000413716.7",
"protein_id": "ENSP00000404431.3",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 1797,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413716.7"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000642200.1",
"protein_id": "ENSP00000495919.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1871,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642200.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "NM_001135597.2",
"protein_id": "NP_001129069.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1870,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135597.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000935827.1",
"protein_id": "ENSP00000605886.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1870,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935827.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000935824.1",
"protein_id": "ENSP00000605883.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1844,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935824.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "NM_018084.5",
"protein_id": "NP_060554.3",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1843,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018084.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000935825.1",
"protein_id": "ENSP00000605884.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1843,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935825.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000935826.1",
"protein_id": "ENSP00000605885.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1843,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935826.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000643413.1",
"protein_id": "ENSP00000494811.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1842,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643413.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "NM_001254943.2",
"protein_id": "NP_001241872.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1796,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001254943.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000646796.1",
"protein_id": "ENSP00000493703.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1796,
"cds_start": 2315,
"cds_end": null,
"cds_length": 5391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646796.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.1679delT",
"hgvs_p": "p.Leu560fs",
"transcript": "ENST00000647401.1",
"protein_id": "ENSP00000496148.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1604,
"cds_start": 1679,
"cds_end": null,
"cds_length": 4815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647401.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000645477.1",
"protein_id": "ENSP00000495712.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1494,
"cds_start": 2315,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645477.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000645072.1",
"protein_id": "ENSP00000494030.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1493,
"cds_start": 2315,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645072.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.185delT",
"hgvs_p": "p.Leu62fs",
"transcript": "ENST00000647396.1",
"protein_id": "ENSP00000496591.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 1134,
"cds_start": 185,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647396.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.38delT",
"hgvs_p": "p.Leu13fs",
"transcript": "ENST00000645860.1",
"protein_id": "ENSP00000496581.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1112,
"cds_start": 38,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645860.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.170delT",
"hgvs_p": "p.Leu57fs",
"transcript": "ENST00000642563.1",
"protein_id": "ENSP00000493994.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1108,
"cds_start": 170,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642563.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88A",
"gene_hgnc_id": 25523,
"hgvs_c": "c.2315delT",
"hgvs_p": "p.Leu772fs",
"transcript": "ENST00000644630.1",
"protein_id": "ENSP00000495652.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 827,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2485,
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{
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{
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"verdict": "Uncertain_significance",
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},
{
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],
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "PEHO-like syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}