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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: 1-235448755-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235448755&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 235448755,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000642610.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1577G>C",
"hgvs_p": "p.Arg526Pro",
"transcript": "NM_003193.5",
"protein_id": "NP_003184.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 527,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": "ENST00000642610.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1577G>C",
"hgvs_p": "p.Arg526Pro",
"transcript": "ENST00000642610.2",
"protein_id": "ENSP00000494796.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 527,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": "NM_003193.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.1577G>C",
"hgvs_p": "p.Arg526Pro",
"transcript": "ENST00000647186.1",
"protein_id": "ENSP00000494775.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 527,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1388G>C",
"hgvs_p": "p.Arg463Pro",
"transcript": "ENST00000366601.8",
"protein_id": "ENSP00000355560.4",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 464,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.*1451C>G",
"hgvs_p": null,
"transcript": "NM_152490.5",
"protein_id": "NP_689703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4719,
"mane_select": "ENST00000366600.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.*1451C>G",
"hgvs_p": null,
"transcript": "ENST00000366600.8",
"protein_id": "ENSP00000355559.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4719,
"mane_select": "NM_152490.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1730G>C",
"hgvs_p": "p.Arg577Pro",
"transcript": "NM_001287801.2",
"protein_id": "NP_001274730.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 578,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1730G>C",
"hgvs_p": "p.Arg577Pro",
"transcript": "ENST00000543662.4",
"protein_id": "ENSP00000439170.1",
"transcript_support_level": 2,
"aa_start": 577,
"aa_end": null,
"aa_length": 578,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1643G>C",
"hgvs_p": "p.Arg548Pro",
"transcript": "ENST00000644217.1",
"protein_id": "ENSP00000494646.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 549,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1577G>C",
"hgvs_p": "p.Arg526Pro",
"transcript": "NM_001079515.3",
"protein_id": "NP_001072983.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 527,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1577G>C",
"hgvs_p": "p.Arg526Pro",
"transcript": "ENST00000406207.5",
"protein_id": "ENSP00000384571.1",
"transcript_support_level": 5,
"aa_start": 526,
"aa_end": null,
"aa_length": 527,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.1577G>C",
"hgvs_p": "p.Arg526Pro",
"transcript": "ENST00000645205.1",
"protein_id": "ENSP00000495823.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 527,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.1577G>C",
"hgvs_p": "p.Arg526Pro",
"transcript": "ENST00000645351.1",
"protein_id": "ENSP00000494319.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 527,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.1577G>C",
"hgvs_p": "p.Arg526Pro",
"transcript": "ENST00000645655.1",
"protein_id": "ENSP00000495202.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 527,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.1577G>C",
"hgvs_p": "p.Arg526Pro",
"transcript": "ENST00000646624.1",
"protein_id": "ENSP00000494575.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 527,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 2334,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1457G>C",
"hgvs_p": "p.Arg486Pro",
"transcript": "ENST00000644578.1",
"protein_id": "ENSP00000495953.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 487,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1238G>C",
"hgvs_p": "p.Arg413Pro",
"transcript": "NM_001287802.2",
"protein_id": "NP_001274731.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 414,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.1238G>C",
"hgvs_p": "p.Arg413Pro",
"transcript": "ENST00000647428.1",
"protein_id": "ENSP00000495630.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 414,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1238G>C",
"hgvs_p": "p.Arg413Pro",
"transcript": "ENST00000651186.1",
"protein_id": "ENSP00000498645.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 414,
"cds_start": 1238,
"cds_end": null,
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"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "n.1528G>C",
"hgvs_p": null,
"transcript": "ENST00000465463.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "n.2301G>C",
"hgvs_p": null,
"transcript": "ENST00000472011.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "n.*1274G>C",
"hgvs_p": null,
"transcript": "ENST00000642339.1",
"protein_id": "ENSP00000495425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "n.*2011G>C",
"hgvs_p": null,
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"gnomad_mito_homoplasmic": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.694,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000642610.2",
"gene_symbol": "TBCE",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Arg526Pro"
},
{
"score": 2,
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"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000647186.1",
"gene_symbol": "ENSG00000285053",
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"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1577G>C",
"hgvs_p": "p.Arg526Pro"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000366600.8",
"gene_symbol": "B3GALNT2",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.*1451C>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}