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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: 4-49061855-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=49061855&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CWH43",
"hgnc_id": 26133,
"hgvs_c": "c.2065C>T",
"hgvs_p": "p.His689Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_025087.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0871,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.565766453742981,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 699,
"aa_ref": "H",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 2220,
"cds_end": null,
"cds_length": 2100,
"cds_start": 2065,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_025087.3",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.2065C>T",
"hgvs_p": "p.His689Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000226432.9",
"protein_coding": true,
"protein_id": "NP_079363.2",
"strand": true,
"transcript": "NM_025087.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 699,
"aa_ref": "H",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 2220,
"cds_end": null,
"cds_length": 2100,
"cds_start": 2065,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000226432.9",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.2065C>T",
"hgvs_p": "p.His689Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025087.3",
"protein_coding": true,
"protein_id": "ENSP00000226432.4",
"strand": true,
"transcript": "ENST00000226432.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 718,
"aa_ref": "H",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 2349,
"cds_end": null,
"cds_length": 2157,
"cds_start": 2122,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000856986.1",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.His708Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527045.1",
"strand": true,
"transcript": "ENST00000856986.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 694,
"aa_ref": "H",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2050,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000856987.1",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.2050C>T",
"hgvs_p": "p.His684Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527046.1",
"strand": true,
"transcript": "ENST00000856987.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 672,
"aa_ref": "H",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 2169,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1984,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001286791.2",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.His662Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273720.1",
"strand": true,
"transcript": "NM_001286791.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 672,
"aa_ref": "H",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 2169,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1984,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000513409.1",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.His662Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422802.1",
"strand": true,
"transcript": "ENST00000513409.1",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 660,
"aa_ref": "H",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 2109,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1948,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000856988.1",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.1948C>T",
"hgvs_p": "p.His650Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527047.1",
"strand": true,
"transcript": "ENST00000856988.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 641,
"aa_ref": "H",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1891,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000856990.1",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.1891C>T",
"hgvs_p": "p.His631Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527049.1",
"strand": true,
"transcript": "ENST00000856990.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 635,
"aa_ref": "H",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1873,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000856992.1",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.1873C>T",
"hgvs_p": "p.His625Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527051.1",
"strand": true,
"transcript": "ENST00000856992.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 632,
"aa_ref": "H",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1864,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000856991.1",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.1864C>T",
"hgvs_p": "p.His622Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527050.1",
"strand": true,
"transcript": "ENST00000856991.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 613,
"aa_ref": "H",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 2075,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000856985.1",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.1807C>T",
"hgvs_p": "p.His603Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527044.1",
"strand": true,
"transcript": "ENST00000856985.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 580,
"aa_ref": "H",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 1842,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1708,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000948155.1",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.1708C>T",
"hgvs_p": "p.His570Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618214.1",
"strand": true,
"transcript": "ENST00000948155.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 563,
"aa_ref": "H",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2045,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1657,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000948154.1",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.1657C>T",
"hgvs_p": "p.His553Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618213.1",
"strand": true,
"transcript": "ENST00000948154.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 558,
"aa_ref": "H",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2021,
"cdna_start": 1797,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1642,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000856989.1",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.1642C>T",
"hgvs_p": "p.His548Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527048.1",
"strand": true,
"transcript": "ENST00000856989.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 446,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1543,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1341,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856993.1",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.His436Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527052.1",
"strand": true,
"transcript": "ENST00000856993.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 718,
"aa_ref": "H",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2501,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 2157,
"cds_start": 2122,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011513755.2",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.His708Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512057.1",
"strand": true,
"transcript": "XM_011513755.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 691,
"aa_ref": "H",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 2076,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011513756.4",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.2041C>T",
"hgvs_p": "p.His681Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512058.1",
"strand": true,
"transcript": "XM_011513756.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_length": 2450,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 2076,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011513757.3",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.2041C>T",
"hgvs_p": "p.His681Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512059.1",
"strand": true,
"transcript": "XM_011513757.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 632,
"aa_ref": "H",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1864,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011513758.2",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.1864C>T",
"hgvs_p": "p.His622Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512060.1",
"strand": true,
"transcript": "XM_011513758.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 530,
"aa_ref": "H",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011513759.1",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.His520Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512061.1",
"strand": true,
"transcript": "XM_011513759.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2135,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000514053.6",
"gene_hgnc_id": 26133,
"gene_symbol": "CWH43",
"hgvs_c": "n.*1075C>T",
"hgvs_p": null,
"intron_rank": null,
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}