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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: 11-85712157-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=85712157&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 85712157,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000359152.10",
"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": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5626-925C>G",
"hgvs_p": null,
"transcript": "NM_206927.4",
"protein_id": "NP_996810.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2239,
"cds_start": -4,
"cds_end": null,
"cds_length": 6720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8263,
"mane_select": "ENST00000359152.10",
"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": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5626-925C>G",
"hgvs_p": null,
"transcript": "ENST00000359152.10",
"protein_id": "ENSP00000352065.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2239,
"cds_start": -4,
"cds_end": null,
"cds_length": 6720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8263,
"mane_select": "NM_206927.4",
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.1711-925C>G",
"hgvs_p": null,
"transcript": "ENST00000528231.5",
"protein_id": "ENSP00000431701.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": -4,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3536,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.1758+2256C>G",
"hgvs_p": null,
"transcript": "ENST00000389960.8",
"protein_id": "ENSP00000374610.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 910,
"cds_start": -4,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4299,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.37-925C>G",
"hgvs_p": null,
"transcript": "ENST00000525702.5",
"protein_id": "ENSP00000432996.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": -4,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "n.4249-925C>G",
"hgvs_p": null,
"transcript": "ENST00000525423.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "n.36+2256C>G",
"hgvs_p": null,
"transcript": "ENST00000532995.5",
"protein_id": "ENSP00000436678.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2437,
"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": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5623-925C>G",
"hgvs_p": null,
"transcript": "NM_001394447.1",
"protein_id": "NP_001381376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2238,
"cds_start": -4,
"cds_end": null,
"cds_length": 6717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8260,
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5578-925C>G",
"hgvs_p": null,
"transcript": "NM_001394448.1",
"protein_id": "NP_001381377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2223,
"cds_start": -4,
"cds_end": null,
"cds_length": 6672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5578-925C>G",
"hgvs_p": null,
"transcript": "NM_001394449.1",
"protein_id": "NP_001381378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2223,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5578-925C>G",
"hgvs_p": null,
"transcript": "ENST00000634661.1",
"protein_id": "ENSP00000489269.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 11,
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"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5575-925C>G",
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"transcript": "NM_206928.4",
"protein_id": "NP_996811.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 12,
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"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5545-925C>G",
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"transcript": "NM_001394473.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 11,
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"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5497-925C>G",
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"transcript": "NM_001394450.1",
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},
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],
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"gene_symbol": "SYTL2",
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"transcript": "NM_001394451.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "SYTL2",
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"hgvs_c": "c.5577+2256C>G",
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},
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],
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"gene_symbol": "SYTL2",
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"hgvs_c": "c.1762-925C>G",
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"transcript": "NM_001394453.1",
"protein_id": "NP_001381382.1",
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},
{
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"consequences": [
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],
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"intron_rank": 12,
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"gene_symbol": "SYTL2",
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"hgvs_c": "c.1762-925C>G",
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"transcript": "NM_001394454.1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SYTL2",
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"hgvs_c": "c.1759-925C>G",
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},
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],
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},
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],
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"gene_symbol": "SYTL2",
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},
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 11,
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"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.1714-925C>G",
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"transcript": "ENST00000316356.8",
"protein_id": "ENSP00000318803.4",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 11,
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"gene_symbol": "SYTL2",
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"hgvs_c": "c.1711-925C>G",
"hgvs_p": null,
"transcript": "NM_001162951.4",
"protein_id": "NP_001156423.1",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.904,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000359152.10",
"gene_symbol": "SYTL2",
"hgnc_id": 15585,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5626-925C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}