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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: 14-31178035-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=31178035&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 31178035,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_015382.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "NM_015382.4",
"protein_id": "NP_056197.3",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2610,
"cds_start": 360,
"cds_end": null,
"cds_length": 7833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399332.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015382.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000399332.6",
"protein_id": "ENSP00000382269.1",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 2610,
"cds_start": 360,
"cds_end": null,
"cds_length": 7833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015382.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399332.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000860799.1",
"protein_id": "ENSP00000530858.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2626,
"cds_start": 360,
"cds_end": null,
"cds_length": 7881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860799.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "NM_001437347.1",
"protein_id": "NP_001424276.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2610,
"cds_start": 360,
"cds_end": null,
"cds_length": 7833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437347.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000553700.5",
"protein_id": "ENSP00000450697.1",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 2610,
"cds_start": 360,
"cds_end": null,
"cds_length": 7833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553700.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "NM_001439059.1",
"protein_id": "NP_001425988.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2608,
"cds_start": 360,
"cds_end": null,
"cds_length": 7827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439059.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000611816.5",
"protein_id": "ENSP00000484981.2",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 2608,
"cds_start": 360,
"cds_end": null,
"cds_length": 7827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611816.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000931520.1",
"protein_id": "ENSP00000601579.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2608,
"cds_start": 360,
"cds_end": null,
"cds_length": 7827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931520.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000931524.1",
"protein_id": "ENSP00000601583.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2594,
"cds_start": 360,
"cds_end": null,
"cds_length": 7785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931524.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000972023.1",
"protein_id": "ENSP00000642082.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2566,
"cds_start": 360,
"cds_end": null,
"cds_length": 7701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972023.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000972017.1",
"protein_id": "ENSP00000642076.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2565,
"cds_start": 360,
"cds_end": null,
"cds_length": 7698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972017.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000972020.1",
"protein_id": "ENSP00000642079.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2565,
"cds_start": 360,
"cds_end": null,
"cds_length": 7698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972020.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "NM_001411010.1",
"protein_id": "NP_001397939.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2563,
"cds_start": 360,
"cds_end": null,
"cds_length": 7692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411010.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000692835.1",
"protein_id": "ENSP00000510470.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2563,
"cds_start": 360,
"cds_end": null,
"cds_length": 7692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692835.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000860797.1",
"protein_id": "ENSP00000530856.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2563,
"cds_start": 360,
"cds_end": null,
"cds_length": 7692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860797.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "NM_001439060.1",
"protein_id": "NP_001425989.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2561,
"cds_start": 360,
"cds_end": null,
"cds_length": 7686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439060.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000860796.1",
"protein_id": "ENSP00000530855.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2561,
"cds_start": 360,
"cds_end": null,
"cds_length": 7686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860796.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000931521.1",
"protein_id": "ENSP00000601580.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2561,
"cds_start": 360,
"cds_end": null,
"cds_length": 7686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931521.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000972022.1",
"protein_id": "ENSP00000642081.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2561,
"cds_start": 360,
"cds_end": null,
"cds_length": 7686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972022.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "NM_001437348.1",
"protein_id": "NP_001424277.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2549,
"cds_start": 360,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437348.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000931525.1",
"protein_id": "ENSP00000601584.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2549,
"cds_start": 360,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931525.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD1",
"gene_hgnc_id": 20157,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ala120Ala",
"transcript": "ENST00000972012.1",
"protein_id": "ENSP00000642071.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 2549,
"cds_start": 360,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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],
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"bayesdelnoaf_score": -0.36,
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"acmg_by_gene": [
{
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"BP7",
"BA1"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}