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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: 6-7568467-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=7568467&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DSP",
"hgnc_id": 3052,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_004415.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.4209,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Arrhythmogenic cardiomyopathy with wooly hair and keratoderma,Arrhythmogenic right ventricular dysplasia 8",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7670354843139648,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2871,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9697,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 8616,
"cds_start": 1297,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_004415.4",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379802.8",
"protein_coding": true,
"protein_id": "NP_004406.2",
"strand": true,
"transcript": "NM_004415.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2871,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9697,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 8616,
"cds_start": 1297,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000379802.8",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004415.4",
"protein_coding": true,
"protein_id": "ENSP00000369129.3",
"strand": true,
"transcript": "ENST00000379802.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2272,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8248,
"cdna_start": 1887,
"cds_end": null,
"cds_length": 6819,
"cds_start": 1297,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000418664.3",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396591.2",
"strand": true,
"transcript": "ENST00000418664.3",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2829,
"aa_ref": "R",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11596,
"cdna_start": 3441,
"cds_end": null,
"cds_length": 8490,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713904.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519203.1",
"strand": true,
"transcript": "ENST00000713904.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2428,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8368,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 7287,
"cds_start": 1297,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001319034.2",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305963.1",
"strand": true,
"transcript": "NM_001319034.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2428,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8700,
"cdna_start": 1875,
"cds_end": null,
"cds_length": 7287,
"cds_start": 1297,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000710359.2",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518230.1",
"strand": true,
"transcript": "ENST00000710359.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2272,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7900,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 6819,
"cds_start": 1297,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001008844.3",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008844.1",
"strand": true,
"transcript": "NM_001008844.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2106,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7486,
"cdna_start": 1766,
"cds_end": null,
"cds_length": 6321,
"cds_start": 1297,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713909.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519208.1",
"strand": true,
"transcript": "ENST00000713909.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 479,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1297,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001406591.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393520.1",
"strand": true,
"transcript": "NM_001406591.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 479,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1297,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713910.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519209.1",
"strand": true,
"transcript": "ENST00000713910.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1508,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000682228.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "n.1482C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000682228.1",
"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": 9736,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713869.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "n.*519C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519174.1",
"strand": true,
"transcript": "ENST00000713869.1",
"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": 8072,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713903.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "n.*348C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519202.1",
"strand": true,
"transcript": "ENST00000713903.1",
"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": 4547,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713911.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "n.*519C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519210.1",
"strand": true,
"transcript": "ENST00000713911.1",
"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": 9662,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713912.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "n.*348C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519211.1",
"strand": true,
"transcript": "ENST00000713912.1",
"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": 9633,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713913.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "n.1297C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519212.1",
"strand": true,
"transcript": "ENST00000713913.1",
"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": 9546,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713924.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "n.*1017C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519221.1",
"strand": true,
"transcript": "ENST00000713924.1",
"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": 9736,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713869.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "n.*519C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519174.1",
"strand": true,
"transcript": "ENST00000713869.1",
"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": 8072,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713903.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "n.*348C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519202.1",
"strand": true,
"transcript": "ENST00000713903.1",
"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": 4547,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713911.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "n.*519C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519210.1",
"strand": true,
"transcript": "ENST00000713911.1",
"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": 9662,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713912.1",
"gene_hgnc_id": 3052,
"gene_symbol": "DSP",
"hgvs_c": "n.*348C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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{
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],
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]
}