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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: 1-46398839-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46398839&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FAAH",
"hgnc_id": 3553,
"hgvs_c": "c.196-3252G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001441.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 105742,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.99,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9900000095367432,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 579,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": null,
"cds_end": null,
"cds_length": 1740,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441.3",
"gene_hgnc_id": 3553,
"gene_symbol": "FAAH",
"hgvs_c": "c.196-3252G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000243167.9",
"protein_coding": true,
"protein_id": "NP_001432.2",
"strand": true,
"transcript": "NM_001441.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 579,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": null,
"cds_end": null,
"cds_length": 1740,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000243167.9",
"gene_hgnc_id": 3553,
"gene_symbol": "FAAH",
"hgvs_c": "c.196-3252G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001441.3",
"protein_coding": true,
"protein_id": "ENSP00000243167.8",
"strand": true,
"transcript": "ENST00000243167.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 616,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": null,
"cds_end": null,
"cds_length": 1851,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877148.1",
"gene_hgnc_id": 3553,
"gene_symbol": "FAAH",
"hgvs_c": "c.196-3252G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547207.1",
"strand": true,
"transcript": "ENST00000877148.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 615,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": null,
"cds_end": null,
"cds_length": 1848,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877151.1",
"gene_hgnc_id": 3553,
"gene_symbol": "FAAH",
"hgvs_c": "c.196-3252G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547210.1",
"strand": true,
"transcript": "ENST00000877151.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 605,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2119,
"cdna_start": null,
"cds_end": null,
"cds_length": 1818,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877150.1",
"gene_hgnc_id": 3553,
"gene_symbol": "FAAH",
"hgvs_c": "c.196-3252G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547209.1",
"strand": true,
"transcript": "ENST00000877150.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 601,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": null,
"cds_end": null,
"cds_length": 1806,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877145.1",
"gene_hgnc_id": 3553,
"gene_symbol": "FAAH",
"hgvs_c": "c.196-3252G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547204.1",
"strand": true,
"transcript": "ENST00000877145.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 597,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": null,
"cds_end": null,
"cds_length": 1794,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877157.1",
"gene_hgnc_id": 3553,
"gene_symbol": "FAAH",
"hgvs_c": "c.196-3252G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547216.1",
"strand": true,
"transcript": "ENST00000877157.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 591,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": null,
"cds_end": null,
"cds_length": 1776,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877143.1",
"gene_hgnc_id": 3553,
"gene_symbol": "FAAH",
"hgvs_c": "c.196-3252G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000547202.1",
"strand": true,
"transcript": "ENST00000877143.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
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"exon_rank_end": null,
"feature": "ENST00000936572.1",
"gene_hgnc_id": 3553,
"gene_symbol": "FAAH",
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"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000606631.1",
"strand": true,
"transcript": "ENST00000936572.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000877147.1",
"gene_hgnc_id": 3553,
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"protein_coding": true,
"protein_id": "ENSP00000547206.1",
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"transcript": "ENST00000877147.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000877152.1",
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"gene_symbol": "FAAH",
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},
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},
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],
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"feature": "ENST00000936571.1",
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},
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],
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"feature": "ENST00000877144.1",
"gene_hgnc_id": 3553,
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"protein_id": "ENSP00000547203.1",
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"transcript": "ENST00000877144.1",
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},
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"consequences": [
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],
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"feature": "ENST00000936570.1",
"gene_hgnc_id": 3553,
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"hgvs_c": "c.196-3252G>A",
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},
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],
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"feature": "ENST00000936575.1",
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],
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"feature": "ENST00000877153.1",
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],
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"feature": "ENST00000877155.1",
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"protein_coding": true,
"protein_id": "ENSP00000547214.1",
"strand": true,
"transcript": "ENST00000877155.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000936574.1",
"gene_hgnc_id": 3553,
"gene_symbol": "FAAH",
"hgvs_c": "c.196-3252G>A",
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"protein_id": "ENSP00000606633.1",
"strand": true,
"transcript": "ENST00000936574.1",
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},
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