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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: 8-143575430-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143575430&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NAPRT",
"hgnc_id": 30450,
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.Gly428Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_145201.6",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000255050",
"hgnc_id": null,
"hgvs_c": "n.436+324G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000531730.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 140958,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7799999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 538,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1284,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_145201.6",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.Gly428Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000449291.7",
"protein_coding": true,
"protein_id": "NP_660202.3",
"strand": false,
"transcript": "NM_145201.6",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 538,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1284,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000449291.7",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.Gly428Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145201.6",
"protein_coding": true,
"protein_id": "ENSP00000401508.2",
"strand": false,
"transcript": "ENST00000449291.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 525,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1284,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000426292.7",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.Gly428Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390949.3",
"strand": false,
"transcript": "ENST00000426292.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "non_stop_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000340490.7",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "n.1284C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000341136.3",
"strand": false,
"transcript": "ENST00000340490.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 583,
"aa_ref": "G",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1419,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000955122.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1419C>T",
"hgvs_p": "p.Gly473Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625181.1",
"strand": false,
"transcript": "ENST00000955122.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 558,
"aa_ref": "G",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2028,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896706.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1344C>T",
"hgvs_p": "p.Gly448Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566765.1",
"strand": false,
"transcript": "ENST00000896706.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 552,
"aa_ref": "G",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1986,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 1659,
"cds_start": 1326,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896710.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1326C>T",
"hgvs_p": "p.Gly442Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566769.1",
"strand": false,
"transcript": "ENST00000896710.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 548,
"aa_ref": "G",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1314,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896705.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1314C>T",
"hgvs_p": "p.Gly438Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566764.1",
"strand": false,
"transcript": "ENST00000896705.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1726,
"cdna_start": 1339,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1305,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896712.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1305C>T",
"hgvs_p": "p.Gly435Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566771.1",
"strand": false,
"transcript": "ENST00000896712.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 537,
"aa_ref": "G",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1281,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000955117.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1281C>T",
"hgvs_p": "p.Gly427Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625176.1",
"strand": false,
"transcript": "ENST00000955117.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 533,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1269,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896711.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1269C>T",
"hgvs_p": "p.Gly423Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566770.1",
"strand": false,
"transcript": "ENST00000896711.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 533,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1678,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1269,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896715.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1269C>T",
"hgvs_p": "p.Gly423Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566774.1",
"strand": false,
"transcript": "ENST00000896715.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 525,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1284,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001286829.2",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.Gly428Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273758.1",
"strand": false,
"transcript": "NM_001286829.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 525,
"aa_ref": "G",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": 1556,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1245,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896704.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1245C>T",
"hgvs_p": "p.Gly415Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566763.1",
"strand": false,
"transcript": "ENST00000896704.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 525,
"aa_ref": "G",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1245,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000955120.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1245C>T",
"hgvs_p": "p.Gly415Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625179.1",
"strand": false,
"transcript": "ENST00000955120.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 524,
"aa_ref": "G",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1281,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000933605.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1281C>T",
"hgvs_p": "p.Gly427Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603664.1",
"strand": false,
"transcript": "ENST00000933605.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 523,
"aa_ref": "G",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1920,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1239,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896708.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1239C>T",
"hgvs_p": "p.Gly413Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566767.1",
"strand": false,
"transcript": "ENST00000896708.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 523,
"aa_ref": "G",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1655,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1239,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000896713.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1239C>T",
"hgvs_p": "p.Gly413Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566772.1",
"strand": false,
"transcript": "ENST00000896713.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 516,
"aa_ref": "G",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 1241,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1218,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000955118.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1218C>T",
"hgvs_p": "p.Gly406Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625177.1",
"strand": false,
"transcript": "ENST00000955118.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 511,
"aa_ref": "G",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1203,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001363145.1",
"gene_hgnc_id": 30450,
"gene_symbol": "NAPRT",
"hgvs_c": "c.1203C>T",
"hgvs_p": "p.Gly401Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350074.1",
"strand": false,
"transcript": "NM_001363145.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 511,
"aa_ref": "G",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1878,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1536,
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