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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: 11-2847898-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2847898&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KCNQ1",
"hgnc_id": 6294,
"hgvs_c": "c.1926C>G",
"hgvs_p": "p.Cys642Trp",
"inheritance_mode": "AD,AR",
"pathogenic_score": 3,
"score": 1,
"transcript": "NM_000218.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "KCNQ1-AS1",
"hgnc_id": 42790,
"hgvs_c": "n.778-7456G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NR_130721.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4_Moderate",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0987,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiovascular phenotype,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0003436280821915716,
"computational_source_selected": "CardioboostArm",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 676,
"aa_ref": "C",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3224,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1926,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_000218.3",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1926C>G",
"hgvs_p": "p.Cys642Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000155840.12",
"protein_coding": true,
"protein_id": "NP_000209.2",
"strand": true,
"transcript": "NM_000218.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 676,
"aa_ref": "C",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3224,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1926,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000155840.12",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1926C>G",
"hgvs_p": "p.Cys642Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000218.3",
"protein_coding": true,
"protein_id": "ENSP00000155840.2",
"strand": true,
"transcript": "ENST00000155840.12",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 549,
"aa_ref": "C",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 1814,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1545,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000335475.6",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1545C>G",
"hgvs_p": "p.Cys515Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334497.5",
"strand": true,
"transcript": "ENST00000335475.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 675,
"aa_ref": "C",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3107,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1923,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000910997.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1923C>G",
"hgvs_p": "p.Cys641Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581056.1",
"strand": true,
"transcript": "ENST00000910997.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 644,
"aa_ref": "C",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1830,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001406836.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1830C>G",
"hgvs_p": "p.Cys610Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393765.1",
"strand": true,
"transcript": "NM_001406836.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 629,
"aa_ref": "C",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": 1990,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1785,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000713725.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1785C>G",
"hgvs_p": "p.Cys595Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519029.1",
"strand": true,
"transcript": "ENST00000713725.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 586,
"aa_ref": "C",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3316,
"cdna_start": 2109,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1656,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001406837.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1656C>G",
"hgvs_p": "p.Cys552Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393766.1",
"strand": true,
"transcript": "NM_001406837.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 557,
"aa_ref": "C",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 1601,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1569,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000496887.7",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1569C>G",
"hgvs_p": "p.Cys523Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434560.2",
"strand": true,
"transcript": "ENST00000496887.7",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 549,
"aa_ref": "C",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3021,
"cdna_start": 1814,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1545,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_181798.2",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1545C>G",
"hgvs_p": "p.Cys515Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_861463.1",
"strand": true,
"transcript": "NM_181798.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 496,
"aa_ref": "C",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1491,
"cds_start": 1386,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001406838.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1386C>G",
"hgvs_p": "p.Cys462Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393767.1",
"strand": true,
"transcript": "NM_001406838.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 180,
"aa_ref": "C",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 445,
"cds_end": null,
"cds_length": 543,
"cds_start": 438,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001406839.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.438C>G",
"hgvs_p": "p.Cys146Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393768.1",
"strand": true,
"transcript": "NM_001406839.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 144,
"aa_ref": "C",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 828,
"cdna_start": 433,
"cds_end": null,
"cds_length": 435,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000526095.2",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Cys110Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494939.1",
"strand": true,
"transcript": "ENST00000526095.2",
"transcript_support_level": 3
},
{
"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": 3499,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000713724.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "n.*1892C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519028.1",
"strand": true,
"transcript": "ENST00000713724.1",
"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": 3499,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000713724.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "n.*1892C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519028.1",
"strand": true,
"transcript": "ENST00000713724.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000440887.2",
"gene_hgnc_id": 42790,
"gene_symbol": "KCNQ1-AS1",
"hgvs_c": "n.777-7456G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000440887.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000737299.1",
"gene_hgnc_id": 42790,
"gene_symbol": "KCNQ1-AS1",
"hgvs_c": "n.263-7456G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000737299.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 658,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000737300.1",
"gene_hgnc_id": 42790,
"gene_symbol": "KCNQ1-AS1",
"hgvs_c": "n.351-7456G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000737300.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1171,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000737301.1",
"gene_hgnc_id": 42790,
"gene_symbol": "KCNQ1-AS1",
"hgvs_c": "n.864-7456G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000737301.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000737302.1",
"gene_hgnc_id": 42790,
"gene_symbol": "KCNQ1-AS1",
"hgvs_c": "n.731-7456G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000737302.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000737303.1",
"gene_hgnc_id": 42790,
"gene_symbol": "KCNQ1-AS1",
"hgvs_c": "n.496-2588G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000737303.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1085,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
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"strand": false,
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}
],
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"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified|Cardiovascular phenotype",
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"ref": "C",
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"splice_source_selected": "max_spliceai",
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}
]
}