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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: 1-207126725-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=207126725&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "C4BPA",
"hgnc_id": 1325,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_000715.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 22069,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0658,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003504544496536255,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000715.4",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367070.8",
"protein_coding": true,
"protein_id": "NP_000706.1",
"strand": true,
"transcript": "NM_000715.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000367070.8",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000715.4",
"protein_coding": true,
"protein_id": "ENSP00000356037.3",
"strand": true,
"transcript": "ENST00000367070.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 634,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1905,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902686.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Arg277His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572745.1",
"strand": true,
"transcript": "ENST00000902686.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 634,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1905,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902687.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Arg277His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572746.1",
"strand": true,
"transcript": "ENST00000902687.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1845,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902701.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572760.1",
"strand": true,
"transcript": "ENST00000902701.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 599,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 827,
"cds_end": null,
"cds_length": 1800,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902700.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572759.1",
"strand": true,
"transcript": "ENST00000902700.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1797,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902660.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572719.1",
"strand": true,
"transcript": "ENST00000902660.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1797,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902671.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572730.1",
"strand": true,
"transcript": "ENST00000902671.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1797,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902675.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572734.1",
"strand": true,
"transcript": "ENST00000902675.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2309,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902659.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572718.1",
"strand": true,
"transcript": "ENST00000902659.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902661.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572720.1",
"strand": true,
"transcript": "ENST00000902661.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2196,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902662.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572721.1",
"strand": true,
"transcript": "ENST00000902662.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 857,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902663.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572722.1",
"strand": true,
"transcript": "ENST00000902663.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2438,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902664.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572723.1",
"strand": true,
"transcript": "ENST00000902664.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902665.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572724.1",
"strand": true,
"transcript": "ENST00000902665.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902668.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572727.1",
"strand": true,
"transcript": "ENST00000902668.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000902669.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572728.1",
"strand": true,
"transcript": "ENST00000902669.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902672.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572731.1",
"strand": true,
"transcript": "ENST00000902672.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000902673.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572732.1",
"strand": true,
"transcript": "ENST00000902673.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000902676.1",
"gene_hgnc_id": 1325,
"gene_symbol": "C4BPA",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572735.1",
"strand": true,
"transcript": "ENST00000902676.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1794,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
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