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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: 3-30691464-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=30691464&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TGFBR2",
"hgnc_id": 11773,
"hgvs_c": "c.1752C>G",
"hgvs_p": "p.His584Gln",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001407126.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.3402,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4690631031990051,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 567,
"aa_ref": "H",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4530,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1569,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_003242.6",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1569C>G",
"hgvs_p": "p.His523Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000295754.10",
"protein_coding": true,
"protein_id": "NP_003233.4",
"strand": true,
"transcript": "NM_003242.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 567,
"aa_ref": "H",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4530,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1569,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000295754.10",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1569C>G",
"hgvs_p": "p.His523Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003242.6",
"protein_coding": true,
"protein_id": "ENSP00000295754.5",
"strand": true,
"transcript": "ENST00000295754.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 592,
"aa_ref": "H",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4605,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1644,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000359013.4",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1644C>G",
"hgvs_p": "p.His548Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351905.4",
"strand": true,
"transcript": "ENST00000359013.4",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 628,
"aa_ref": "H",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": 2035,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001407126.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1752C>G",
"hgvs_p": "p.His584Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394055.1",
"strand": true,
"transcript": "NM_001407126.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 603,
"aa_ref": "H",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4638,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1677,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001407127.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1677C>G",
"hgvs_p": "p.His559Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394056.1",
"strand": true,
"transcript": "NM_001407127.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 592,
"aa_ref": "H",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4605,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1644,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001024847.3",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1644C>G",
"hgvs_p": "p.His548Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020018.1",
"strand": true,
"transcript": "NM_001024847.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 577,
"aa_ref": "H",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 1897,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1599,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000941789.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1599C>G",
"hgvs_p": "p.His533Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611848.1",
"strand": true,
"transcript": "ENST00000941789.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 576,
"aa_ref": "H",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4799,
"cdna_start": 2121,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1596,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001407128.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1596C>G",
"hgvs_p": "p.His532Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394057.1",
"strand": true,
"transcript": "NM_001407128.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 568,
"aa_ref": "H",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4499,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1572,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001407129.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1572C>G",
"hgvs_p": "p.His524Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394058.1",
"strand": true,
"transcript": "NM_001407129.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 566,
"aa_ref": "H",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4527,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 1701,
"cds_start": 1566,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001407130.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1566C>G",
"hgvs_p": "p.His522Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394059.1",
"strand": true,
"transcript": "NM_001407130.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 566,
"aa_ref": "H",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4509,
"cdna_start": 1865,
"cds_end": null,
"cds_length": 1701,
"cds_start": 1566,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000941788.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1566C>G",
"hgvs_p": "p.His522Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611847.1",
"strand": true,
"transcript": "ENST00000941788.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 558,
"aa_ref": "H",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1542,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714391.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1542C>G",
"hgvs_p": "p.His514Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519658.1",
"strand": true,
"transcript": "ENST00000714391.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 532,
"aa_ref": "H",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4391,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1464,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001407132.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1464C>G",
"hgvs_p": "p.His488Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394061.1",
"strand": true,
"transcript": "NM_001407132.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 532,
"aa_ref": "H",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4708,
"cdna_start": 2030,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1464,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001407133.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1464C>G",
"hgvs_p": "p.His488Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394062.1",
"strand": true,
"transcript": "NM_001407133.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 532,
"aa_ref": "H",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4586,
"cdna_start": 1908,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1464,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001407134.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1464C>G",
"hgvs_p": "p.His488Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394063.1",
"strand": true,
"transcript": "NM_001407134.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 532,
"aa_ref": "H",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4633,
"cdna_start": 1955,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1464,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001407135.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1464C>G",
"hgvs_p": "p.His488Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394064.1",
"strand": true,
"transcript": "NM_001407135.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 532,
"aa_ref": "H",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1464,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001407136.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1464C>G",
"hgvs_p": "p.His488Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394065.1",
"strand": true,
"transcript": "NM_001407136.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 532,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4261,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1464,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000714389.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1464C>G",
"hgvs_p": "p.His488Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519656.1",
"strand": true,
"transcript": "ENST00000714389.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 532,
"aa_ref": "H",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4360,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1464,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000714390.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1464C>G",
"hgvs_p": "p.His488Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519657.1",
"strand": true,
"transcript": "ENST00000714390.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 472,
"aa_ref": "H",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001407137.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1284C>G",
"hgvs_p": "p.His428Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394066.1",
"strand": true,
"transcript": "NM_001407137.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 447,
"aa_ref": "H",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4170,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 1344,
"cds_start": 1209,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001407138.1",
"gene_hgnc_id": 11773,
"gene_symbol": "TGFBR2",
"hgvs_c": "c.1209C>G",
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