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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: 19-37363138-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=37363138&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": [
"missense_variant"
],
"gene_symbol": "ZNF875",
"hgnc_id": 4928,
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Arg448His",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_181786.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 73048,
"alphamissense_prediction": null,
"alphamissense_score": 0.3024,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0014192163944244385,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001353803.2",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392153.8",
"protein_coding": true,
"protein_id": "NP_001340732.1",
"strand": true,
"transcript": "NM_001353803.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000392153.8",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001353803.2",
"protein_coding": true,
"protein_id": "ENSP00000375994.3",
"strand": true,
"transcript": "ENST00000392153.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 659,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 1980,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000324411.8",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Arg448His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315505.3",
"strand": true,
"transcript": "ENST00000324411.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2758,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1160,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000541583.6",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438261.1",
"strand": true,
"transcript": "ENST00000541583.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 659,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2950,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 1980,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_181786.4",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Arg448His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_861451.1",
"strand": true,
"transcript": "NM_181786.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 641,
"aa_ref": "R",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2757,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001329761.2",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316690.1",
"strand": true,
"transcript": "NM_001329761.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 641,
"aa_ref": "R",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001329762.2",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316691.1",
"strand": true,
"transcript": "NM_001329762.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 641,
"aa_ref": "R",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2152,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000589392.5",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467562.1",
"strand": true,
"transcript": "ENST00000589392.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 641,
"aa_ref": "R",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2800,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862311.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532370.1",
"strand": true,
"transcript": "ENST00000862311.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 641,
"aa_ref": "R",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3164,
"cdna_start": 1847,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862315.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532374.1",
"strand": true,
"transcript": "ENST00000862315.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 641,
"aa_ref": "R",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970698.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640757.1",
"strand": true,
"transcript": "ENST00000970698.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 1778,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001329763.2",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316692.1",
"strand": true,
"transcript": "NM_001329763.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001329764.2",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316693.1",
"strand": true,
"transcript": "NM_001329764.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862310.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532369.1",
"strand": true,
"transcript": "ENST00000862310.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 1865,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862312.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532371.1",
"strand": true,
"transcript": "ENST00000862312.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862313.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532372.1",
"strand": true,
"transcript": "ENST00000862313.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2752,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862314.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532373.1",
"strand": true,
"transcript": "ENST00000862314.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3092,
"cdna_start": 1785,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000911520.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581579.1",
"strand": true,
"transcript": "ENST00000911520.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970697.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640756.1",
"strand": true,
"transcript": "ENST00000970697.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 635,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001329765.2",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316694.1",
"strand": true,
"transcript": "NM_001329765.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 635,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3094,
"cdna_start": 1785,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001329766.2",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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