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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: 11-125627447-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=125627447&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 125627447,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001114122.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.66-160A>G",
"hgvs_p": null,
"transcript": "NM_001114122.3",
"protein_id": "NP_001107594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": "ENST00000438015.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.66-160A>G",
"hgvs_p": null,
"transcript": "ENST00000438015.7",
"protein_id": "ENSP00000388648.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": "NM_001114122.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.337+614A>G",
"hgvs_p": null,
"transcript": "ENST00000427383.6",
"protein_id": "ENSP00000391090.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.66-160A>G",
"hgvs_p": null,
"transcript": "ENST00000428830.6",
"protein_id": "ENSP00000412504.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.66-160A>G",
"hgvs_p": null,
"transcript": "ENST00000534070.5",
"protein_id": "ENSP00000435371.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.7+614A>G",
"hgvs_p": null,
"transcript": "ENST00000544373.5",
"protein_id": "ENSP00000442317.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
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"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.337+614A>G",
"hgvs_p": null,
"transcript": "ENST00000711049.1",
"protein_id": "ENSP00000518558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
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"cds_length": 1479,
"cdna_start": null,
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"cdna_length": 1912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.66-160A>G",
"hgvs_p": null,
"transcript": "NM_001114121.2",
"protein_id": "NP_001107593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.66-160A>G",
"hgvs_p": null,
"transcript": "NM_001274.5",
"protein_id": "NP_001265.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3498,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "CHEK1",
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"hgvs_c": "c.66-160A>G",
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"transcript": "ENST00000532449.6",
"protein_id": "ENSP00000481616.2",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "CHEK1",
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"hgvs_c": "c.66-160A>G",
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"transcript": "NM_001244846.1",
"protein_id": "NP_001231775.1",
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{
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],
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],
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],
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},
{
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],
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"transcript": "ENST00000534685.5",
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],
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},
{
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],
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"gene_symbol": "CHEK1",
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"hgvs_c": "n.962+614A>G",
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],
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{
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}