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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: 1-155443139-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155443139&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155443139,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000392403.8",
"consequences": [
{
"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": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.5087-4071T>G",
"hgvs_p": null,
"transcript": "NM_018489.3",
"protein_id": "NP_060959.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2964,
"cds_start": -4,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12037,
"mane_select": "ENST00000392403.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.5087-4071T>G",
"hgvs_p": null,
"transcript": "ENST00000392403.8",
"protein_id": "ENSP00000376204.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2964,
"cds_start": -4,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12037,
"mane_select": "NM_018489.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.5087-4071T>G",
"hgvs_p": null,
"transcript": "ENST00000368346.7",
"protein_id": "ENSP00000357330.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2969,
"cds_start": -4,
"cds_end": null,
"cds_length": 8910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.5087-4071T>G",
"hgvs_p": null,
"transcript": "NM_001366177.2",
"protein_id": "NP_001353106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2969,
"cds_start": -4,
"cds_end": null,
"cds_length": 8910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.5087-4071T>G",
"hgvs_p": null,
"transcript": "ENST00000679133.1",
"protein_id": "ENSP00000504026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2969,
"cds_start": -4,
"cds_end": null,
"cds_length": 8910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.5087-4071T>G",
"hgvs_p": null,
"transcript": "ENST00000677213.1",
"protein_id": "ENSP00000503315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 5,
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"gene_symbol": "ASH1L",
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"transcript": "ENST00000678117.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.5087-4071T>G",
"hgvs_p": null,
"transcript": "ENST00000679097.1",
"protein_id": "ENSP00000503265.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 11530,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
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"gene_symbol": "ASH1L",
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"hgvs_c": "c.5087-4071T>G",
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"transcript": "ENST00000677825.1",
"protein_id": "ENSP00000503792.1",
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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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"splice_prediction_selected": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}