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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: 1-55058666-CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=55058666&ref=CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 55058666,
"ref": "CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000302118.5",
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1503+36_1503+71delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_174936.4",
"protein_id": "NP_777596.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": -4,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": "ENST00000302118.5",
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1503+20_1503+55delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000302118.5",
"protein_id": "ENSP00000303208.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": -4,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": "NM_174936.4",
"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": 9,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1860+20_1860+55delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000710286.1",
"protein_id": "ENSP00000518176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": -4,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3729,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1626+36_1626+71delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001407240.1",
"protein_id": "NP_001394169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 733,
"cds_start": -4,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3760,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1626+20_1626+55delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000713786.1",
"protein_id": "ENSP00000519088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 733,
"cds_start": -4,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3840,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1503+36_1503+71delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001407241.1",
"protein_id": "NP_001394170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": -4,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1506+36_1506+71delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001407242.1",
"protein_id": "NP_001394171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": -4,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3640,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1446+36_1446+71delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001407243.1",
"protein_id": "NP_001394172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1329+36_1329+71delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001407244.1",
"protein_id": "NP_001394173.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1311+36_1311+71delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001407245.1",
"protein_id": "NP_001394174.1",
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},
{
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],
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"gene_symbol": "PCSK9",
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"hgvs_c": "c.1128+36_1128+71delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
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"transcript": "NM_001407246.1",
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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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],
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},
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],
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},
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
"transcript": "ENST00000302118.5",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}