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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: 15-25360516-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=25360516&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP7",
"BS2",
"PM2_Supporting",
"BP4"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "UBE3A",
"hgnc_id": 12496,
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Ile543Ile",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -5,
"transcript": "NM_000462.5",
"verdict": "Likely_benign"
},
{
"benign_score": 10,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SNHG14",
"hgnc_id": 37462,
"hgvs_c": "n.5767-58272G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -8,
"transcript": "ENST00000424333.6",
"verdict": "Benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP7,BS2,PM2_Supporting,BP4",
"acmg_score": -5,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "15",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Angelman syndrome,not specified",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:1 LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4000000059604645,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 872,
"aa_ref": "I",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8728,
"cdna_start": 2320,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_130839.5",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Ile540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000648336.2",
"protein_coding": true,
"protein_id": "NP_570854.1",
"strand": false,
"transcript": "NM_130839.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 872,
"aa_ref": "I",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8728,
"cdna_start": 2320,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000648336.2",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Ile540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_130839.5",
"protein_coding": true,
"protein_id": "ENSP00000497572.2",
"strand": false,
"transcript": "ENST00000648336.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 852,
"aa_ref": "I",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3176,
"cdna_start": 2146,
"cds_end": null,
"cds_length": 2559,
"cds_start": 1560,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000566215.5",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1560C>T",
"hgvs_p": "p.Ile520Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457771.1",
"strand": false,
"transcript": "ENST00000566215.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7315,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 54,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424333.6",
"gene_hgnc_id": 37462,
"gene_symbol": "SNHG14",
"hgvs_c": "n.5767-58272G>A",
"hgvs_p": null,
"intron_rank": 53,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000424333.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1168,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554726.2",
"gene_hgnc_id": 37462,
"gene_symbol": "SNHG14",
"hgvs_c": "n.489-58272G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000554726.2",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 875,
"aa_ref": "I",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5319,
"cdna_start": 2417,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1629,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000462.5",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Ile543Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000453.2",
"strand": false,
"transcript": "NM_000462.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 875,
"aa_ref": "I",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5274,
"cdna_start": 2385,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1629,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000650110.1",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Ile543Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497594.1",
"strand": false,
"transcript": "ENST00000650110.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 872,
"aa_ref": "I",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4863,
"cdna_start": 1961,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001354505.1",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Ile540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341434.1",
"strand": false,
"transcript": "NM_001354505.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 872,
"aa_ref": "I",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8764,
"cdna_start": 2356,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354538.2",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Ile540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341467.1",
"strand": false,
"transcript": "NM_001354538.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 872,
"aa_ref": "I",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8725,
"cdna_start": 2317,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000637886.1",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Ile540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490258.1",
"strand": false,
"transcript": "ENST00000637886.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 872,
"aa_ref": "I",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3498,
"cdna_start": 2437,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000858359.1",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Ile540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528418.1",
"strand": false,
"transcript": "ENST00000858359.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 872,
"aa_ref": "I",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3462,
"cdna_start": 2410,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000858360.1",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Ile540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528419.1",
"strand": false,
"transcript": "ENST00000858360.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 872,
"aa_ref": "I",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5424,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000918482.1",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Ile540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588541.1",
"strand": false,
"transcript": "ENST00000918482.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 872,
"aa_ref": "I",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3618,
"cdna_start": 2557,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000918483.1",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Ile540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588542.1",
"strand": false,
"transcript": "ENST00000918483.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 872,
"aa_ref": "I",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4604,
"cdna_start": 2241,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000970634.1",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Ile540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640693.1",
"strand": false,
"transcript": "ENST00000970634.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 872,
"aa_ref": "I",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3448,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000970635.1",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Ile540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640694.1",
"strand": false,
"transcript": "ENST00000970635.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 872,
"aa_ref": "I",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3348,
"cdna_start": 2296,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000970636.1",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Ile540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640695.1",
"strand": false,
"transcript": "ENST00000970636.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 852,
"aa_ref": "I",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8864,
"cdna_start": 2456,
"cds_end": null,
"cds_length": 2559,
"cds_start": 1560,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001354506.2",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1560C>T",
"hgvs_p": "p.Ile520Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341435.1",
"strand": false,
"transcript": "NM_001354506.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 852,
"aa_ref": "I",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8960,
"cdna_start": 2552,
"cds_end": null,
"cds_length": 2559,
"cds_start": 1560,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001354507.2",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1560C>T",
"hgvs_p": "p.Ile520Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341436.1",
"strand": false,
"transcript": "NM_001354507.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 852,
"aa_ref": "I",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8924,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 2559,
"cds_start": 1560,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354508.2",
"gene_hgnc_id": 12496,
"gene_symbol": "UBE3A",
"hgvs_c": "c.1560C>T",
"hgvs_p": "p.Ile520Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341437.1",
"strand": false,
"transcript": "NM_001354508.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
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