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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: 1-45629620-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45629620&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GPBP1L1",
"hgnc_id": 28843,
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_021639.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.1901,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5045408606529236,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": 2492,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_021639.5",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355105.8",
"protein_coding": true,
"protein_id": "NP_067652.1",
"strand": false,
"transcript": "NM_021639.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": 2492,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000355105.8",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021639.5",
"protein_coding": true,
"protein_id": "ENSP00000347224.3",
"strand": false,
"transcript": "ENST00000355105.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3596,
"cdna_start": 2447,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001439214.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426143.1",
"strand": false,
"transcript": "NM_001439214.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 2450,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000290795.7",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000290795.3",
"strand": false,
"transcript": "ENST00000290795.7",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 2603,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871064.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541123.1",
"strand": false,
"transcript": "ENST00000871064.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000871066.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541125.1",
"strand": false,
"transcript": "ENST00000871066.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 2347,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871067.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541126.1",
"strand": false,
"transcript": "ENST00000871067.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 2479,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871068.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541127.1",
"strand": false,
"transcript": "ENST00000871068.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3675,
"cdna_start": 2506,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871069.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541128.1",
"strand": false,
"transcript": "ENST00000871069.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 2438,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871070.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541129.1",
"strand": false,
"transcript": "ENST00000871070.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3607,
"cdna_start": 2462,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000871071.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541130.1",
"strand": false,
"transcript": "ENST00000871071.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 2427,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000871072.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541131.1",
"strand": false,
"transcript": "ENST00000871072.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 2397,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871073.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541132.1",
"strand": false,
"transcript": "ENST00000871073.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871074.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541133.1",
"strand": false,
"transcript": "ENST00000871074.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3397,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000871076.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541135.1",
"strand": false,
"transcript": "ENST00000871076.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871077.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541136.1",
"strand": false,
"transcript": "ENST00000871077.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": 2698,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871078.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541137.1",
"strand": false,
"transcript": "ENST00000871078.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2579,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871081.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541140.1",
"strand": false,
"transcript": "ENST00000871081.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 2574,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000871084.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541143.1",
"strand": false,
"transcript": "ENST00000871084.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 2705,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000871085.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541144.1",
"strand": false,
"transcript": "ENST00000871085.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2941,
"cdna_start": 2604,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 14,
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