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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: 5-171868773-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=171868773&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "FBXW11",
"hgnc_id": 13607,
"hgvs_c": "c.1554G>C",
"hgvs_p": "p.Arg518Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001378974.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4099999964237213,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1554,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001378974.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1554G>C",
"hgvs_p": "p.Arg518Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000517395.6",
"protein_coding": true,
"protein_id": "NP_001365903.1",
"strand": false,
"transcript": "NM_001378974.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1554,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000517395.6",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1554G>C",
"hgvs_p": "p.Arg518Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378974.1",
"protein_coding": true,
"protein_id": "ENSP00000428753.2",
"strand": false,
"transcript": "ENST00000517395.6",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "R",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4342,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1491,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000265094.9",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Arg497Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265094.5",
"strand": false,
"transcript": "ENST00000265094.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4539,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1452,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000296933.10",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1452G>C",
"hgvs_p": "p.Arg484Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296933.6",
"strand": false,
"transcript": "ENST00000296933.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2181,
"cdna_start": 1537,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1389,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000393802.6",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1389G>C",
"hgvs_p": "p.Arg463Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377391.2",
"strand": false,
"transcript": "ENST00000393802.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1554,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000962353.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1554G>C",
"hgvs_p": "p.Arg518Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632412.1",
"strand": false,
"transcript": "ENST00000962353.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "R",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4343,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1491,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_012300.3",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Arg497Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036432.2",
"strand": false,
"transcript": "NM_012300.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "R",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1491,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000873749.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Arg497Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543808.1",
"strand": false,
"transcript": "ENST00000873749.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 540,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4337,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1485,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001378975.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1485G>C",
"hgvs_p": "p.Arg495Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365904.1",
"strand": false,
"transcript": "NM_001378975.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1458,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001378976.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1458G>C",
"hgvs_p": "p.Arg486Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365905.1",
"strand": false,
"transcript": "NM_001378976.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4304,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1452,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_033644.3",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1452G>C",
"hgvs_p": "p.Arg484Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_387448.2",
"strand": false,
"transcript": "NM_033644.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1452,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000873746.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1452G>C",
"hgvs_p": "p.Arg484Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543805.1",
"strand": false,
"transcript": "ENST00000873746.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1452,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000873748.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1452G>C",
"hgvs_p": "p.Arg484Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543807.1",
"strand": false,
"transcript": "ENST00000873748.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 528,
"aa_ref": "R",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4300,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1449,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000940682.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1449G>C",
"hgvs_p": "p.Arg483Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610741.1",
"strand": false,
"transcript": "ENST00000940682.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 528,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4304,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1449,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000962351.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1449G>C",
"hgvs_p": "p.Arg483Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632410.1",
"strand": false,
"transcript": "ENST00000962351.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 510,
"aa_ref": "R",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1395,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001378977.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1395G>C",
"hgvs_p": "p.Arg465Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365906.1",
"strand": false,
"transcript": "NM_001378977.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 510,
"aa_ref": "R",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 1718,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1395,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001378978.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1395G>C",
"hgvs_p": "p.Arg465Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365907.1",
"strand": false,
"transcript": "NM_001378978.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 510,
"aa_ref": "R",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4505,
"cdna_start": 1789,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1395,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001378979.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1395G>C",
"hgvs_p": "p.Arg465Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365908.1",
"strand": false,
"transcript": "NM_001378979.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1389,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001378980.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1389G>C",
"hgvs_p": "p.Arg463Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365909.1",
"strand": false,
"transcript": "NM_001378980.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4241,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1389,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_033645.3",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1389G>C",
"hgvs_p": "p.Arg463Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_387449.2",
"strand": false,
"transcript": "NM_033645.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1389,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000873747.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
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