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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: 16-1220439-GG-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1220439&ref=GG&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CACNA1H",
"hgnc_id": 1395,
"hgvs_c": "c.6507_6508delGGinsTC",
"hgvs_p": "p.LysAla2169AsnPro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_021098.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "NP",
"aa_end": null,
"aa_length": 2353,
"aa_ref": "KA",
"aa_start": 2169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8219,
"cdna_start": 6890,
"cds_end": null,
"cds_length": 7062,
"cds_start": 6507,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021098.3",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.6507_6508delGGinsTC",
"hgvs_p": "p.LysAla2169AsnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000348261.11",
"protein_coding": true,
"protein_id": "NP_066921.2",
"strand": true,
"transcript": "NM_021098.3",
"transcript_support_level": null
},
{
"aa_alt": "NP",
"aa_end": null,
"aa_length": 2353,
"aa_ref": "KA",
"aa_start": 2169,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8219,
"cdna_start": 6890,
"cds_end": null,
"cds_length": 7062,
"cds_start": 6507,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000348261.11",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.6507_6508delGGinsTC",
"hgvs_p": "p.LysAla2169AsnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021098.3",
"protein_coding": true,
"protein_id": "ENSP00000334198.7",
"strand": true,
"transcript": "ENST00000348261.11",
"transcript_support_level": 1
},
{
"aa_alt": "NP",
"aa_end": null,
"aa_length": 2358,
"aa_ref": "KA",
"aa_start": 2174,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7550,
"cdna_start": 6905,
"cds_end": null,
"cds_length": 7077,
"cds_start": 6522,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000569107.6",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.6522_6523delGGinsTC",
"hgvs_p": "p.LysAla2174AsnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454990.2",
"strand": true,
"transcript": "ENST00000569107.6",
"transcript_support_level": 1
},
{
"aa_alt": "NP",
"aa_end": null,
"aa_length": 2348,
"aa_ref": "KA",
"aa_start": 2164,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8198,
"cdna_start": 6875,
"cds_end": null,
"cds_length": 7047,
"cds_start": 6492,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000711493.1",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.6492_6493delGGinsTC",
"hgvs_p": "p.LysAla2164AsnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518778.1",
"strand": true,
"transcript": "ENST00000711493.1",
"transcript_support_level": null
},
{
"aa_alt": "NP",
"aa_end": null,
"aa_length": 2347,
"aa_ref": "KA",
"aa_start": 2163,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8196,
"cdna_start": 6870,
"cds_end": null,
"cds_length": 7044,
"cds_start": 6489,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000565831.7",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.6489_6490delGGinsTC",
"hgvs_p": "p.LysAla2163AsnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455840.1",
"strand": true,
"transcript": "ENST00000565831.7",
"transcript_support_level": 1
},
{
"aa_alt": "NP",
"aa_end": null,
"aa_length": 2347,
"aa_ref": "KA",
"aa_start": 2163,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8201,
"cdna_start": 6872,
"cds_end": null,
"cds_length": 7044,
"cds_start": 6489,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000711450.1",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.6489_6490delGGinsTC",
"hgvs_p": "p.LysAla2163AsnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518762.1",
"strand": true,
"transcript": "ENST00000711450.1",
"transcript_support_level": null
},
{
"aa_alt": "NP",
"aa_end": null,
"aa_length": 2342,
"aa_ref": "KA",
"aa_start": 2158,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10507,
"cdna_start": 6820,
"cds_end": null,
"cds_length": 7029,
"cds_start": 6474,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000564231.6",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.6474_6475delGGinsTC",
"hgvs_p": "p.LysAla2158AsnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457555.2",
"strand": true,
"transcript": "ENST00000564231.6",
"transcript_support_level": 1
},
{
"aa_alt": "NP",
"aa_end": null,
"aa_length": 2340,
"aa_ref": "KA",
"aa_start": 2156,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8048,
"cdna_start": 6716,
"cds_end": null,
"cds_length": 7023,
"cds_start": 6468,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638323.1",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.6468_6469delGGinsTC",
"hgvs_p": "p.LysAla2156AsnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492267.1",
"strand": true,
"transcript": "ENST00000638323.1",
"transcript_support_level": 5
},
{
"aa_alt": "NP",
"aa_end": null,
"aa_length": 2336,
"aa_ref": "KA",
"aa_start": 2152,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8162,
"cdna_start": 6833,
"cds_end": null,
"cds_length": 7011,
"cds_start": 6456,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000562079.6",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.6456_6457delGGinsTC",
"hgvs_p": "p.LysAla2152AsnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454581.2",
"strand": true,
"transcript": "ENST00000562079.6",
"transcript_support_level": 1
},
{
"aa_alt": "NP",
"aa_end": null,
"aa_length": 2334,
"aa_ref": "KA",
"aa_start": 2150,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10289,
"cdna_start": 6611,
"cds_end": null,
"cds_length": 7005,
"cds_start": 6450,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000711438.1",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.6450_6451delGGinsTC",
"hgvs_p": "p.LysAla2150AsnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518754.1",
"strand": true,
"transcript": "ENST00000711438.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2137,
"aa_ref": "G",
"aa_start": 2134,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8108,
"cdna_start": 6783,
"cds_end": null,
"cds_length": 6414,
"cds_start": 6400,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000711482.1",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.6400_6401delGGinsTC",
"hgvs_p": "p.Gly2134Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518771.1",
"strand": true,
"transcript": "ENST00000711482.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2120,
"aa_ref": "G",
"aa_start": 2117,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8065,
"cdna_start": 6732,
"cds_end": null,
"cds_length": 6363,
"cds_start": 6349,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000711485.1",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.6349_6350delGGinsTC",
"hgvs_p": "p.Gly2117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518774.1",
"strand": true,
"transcript": "ENST00000711485.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2111,
"aa_ref": "G",
"aa_start": 2108,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8027,
"cdna_start": 6694,
"cds_end": null,
"cds_length": 6336,
"cds_start": 6322,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000711455.1",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.6322_6323delGGinsTC",
"hgvs_p": "p.Gly2108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518768.1",
"strand": true,
"transcript": "ENST00000711455.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2087,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8401,
"cdna_start": null,
"cds_end": null,
"cds_length": 6264,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000711483.1",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.*421_*422delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518772.1",
"strand": true,
"transcript": "ENST00000711483.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1974,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8062,
"cdna_start": null,
"cds_end": null,
"cds_length": 5925,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000711456.1",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "c.*421_*422delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518769.1",
"strand": true,
"transcript": "ENST00000711456.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 8222,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000637236.3",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "n.*2426_*2427delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492650.2",
"strand": true,
"transcript": "ENST00000637236.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 7992,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000639478.1",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "n.*1555_*1556delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491945.1",
"strand": true,
"transcript": "ENST00000639478.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 7375,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000640028.1",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "n.*4325_*4326delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491488.1",
"strand": true,
"transcript": "ENST00000640028.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 7854,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000711442.1",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "n.*5951_*5952delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518758.1",
"strand": true,
"transcript": "ENST00000711442.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 8394,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000711448.1",
"gene_hgnc_id": 1395,
"gene_symbol": "CACNA1H",
"hgvs_c": "n.*1448_*1449delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518760.1",
"strand": true,
"transcript": "ENST00000711448.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 8316,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
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