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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: 16-1219114-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1219114&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1219114,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000569107.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6032G>A",
"hgvs_p": "p.Arg2011Gln",
"transcript": "NM_021098.3",
"protein_id": "NP_066921.2",
"transcript_support_level": null,
"aa_start": 2011,
"aa_end": null,
"aa_length": 2353,
"cds_start": 6032,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 6415,
"cdna_end": null,
"cdna_length": 8219,
"mane_select": "ENST00000348261.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6032G>A",
"hgvs_p": "p.Arg2011Gln",
"transcript": "ENST00000348261.11",
"protein_id": "ENSP00000334198.7",
"transcript_support_level": 1,
"aa_start": 2011,
"aa_end": null,
"aa_length": 2353,
"cds_start": 6032,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 6415,
"cdna_end": null,
"cdna_length": 8219,
"mane_select": "NM_021098.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6047G>A",
"hgvs_p": "p.Arg2016Gln",
"transcript": "ENST00000569107.6",
"protein_id": "ENSP00000454990.2",
"transcript_support_level": 1,
"aa_start": 2016,
"aa_end": null,
"aa_length": 2358,
"cds_start": 6047,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 6430,
"cdna_end": null,
"cdna_length": 7550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6017G>A",
"hgvs_p": "p.Arg2006Gln",
"transcript": "ENST00000711493.1",
"protein_id": "ENSP00000518778.1",
"transcript_support_level": null,
"aa_start": 2006,
"aa_end": null,
"aa_length": 2348,
"cds_start": 6017,
"cds_end": null,
"cds_length": 7047,
"cdna_start": 6400,
"cdna_end": null,
"cdna_length": 8198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6014G>A",
"hgvs_p": "p.Arg2005Gln",
"transcript": "ENST00000565831.7",
"protein_id": "ENSP00000455840.1",
"transcript_support_level": 1,
"aa_start": 2005,
"aa_end": null,
"aa_length": 2347,
"cds_start": 6014,
"cds_end": null,
"cds_length": 7044,
"cdna_start": 6395,
"cdna_end": null,
"cdna_length": 8196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6014G>A",
"hgvs_p": "p.Arg2005Gln",
"transcript": "ENST00000711450.1",
"protein_id": "ENSP00000518762.1",
"transcript_support_level": null,
"aa_start": 2005,
"aa_end": null,
"aa_length": 2347,
"cds_start": 6014,
"cds_end": null,
"cds_length": 7044,
"cdna_start": 6397,
"cdna_end": null,
"cdna_length": 8201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.5999G>A",
"hgvs_p": "p.Arg2000Gln",
"transcript": "ENST00000564231.6",
"protein_id": "ENSP00000457555.2",
"transcript_support_level": 1,
"aa_start": 2000,
"aa_end": null,
"aa_length": 2342,
"cds_start": 5999,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 6345,
"cdna_end": null,
"cdna_length": 10507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.5993G>A",
"hgvs_p": "p.Arg1998Gln",
"transcript": "ENST00000638323.1",
"protein_id": "ENSP00000492267.1",
"transcript_support_level": 5,
"aa_start": 1998,
"aa_end": null,
"aa_length": 2340,
"cds_start": 5993,
"cds_end": null,
"cds_length": 7023,
"cdna_start": 6241,
"cdna_end": null,
"cdna_length": 8048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.5981G>A",
"hgvs_p": "p.Arg1994Gln",
"transcript": "ENST00000562079.6",
"protein_id": "ENSP00000454581.2",
"transcript_support_level": 1,
"aa_start": 1994,
"aa_end": null,
"aa_length": 2336,
"cds_start": 5981,
"cds_end": null,
"cds_length": 7011,
"cdna_start": 6358,
"cdna_end": null,
"cdna_length": 8162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.5975G>A",
"hgvs_p": "p.Arg1992Gln",
"transcript": "ENST00000711438.1",
"protein_id": "ENSP00000518754.1",
"transcript_support_level": null,
"aa_start": 1992,
"aa_end": null,
"aa_length": 2334,
"cds_start": 5975,
"cds_end": null,
"cds_length": 7005,
"cdna_start": 6136,
"cdna_end": null,
"cdna_length": 10289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6032G>A",
"hgvs_p": "p.Arg2011Gln",
"transcript": "ENST00000711482.1",
"protein_id": "ENSP00000518771.1",
"transcript_support_level": null,
"aa_start": 2011,
"aa_end": null,
"aa_length": 2137,
"cds_start": 6032,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 6415,
"cdna_end": null,
"cdna_length": 8108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.5981G>A",
"hgvs_p": "p.Arg1994Gln",
"transcript": "ENST00000711485.1",
"protein_id": "ENSP00000518774.1",
"transcript_support_level": null,
"aa_start": 1994,
"aa_end": null,
"aa_length": 2120,
"cds_start": 5981,
"cds_end": null,
"cds_length": 6363,
"cdna_start": 6364,
"cdna_end": null,
"cdna_length": 8065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.5954G>A",
"hgvs_p": "p.Arg1985Gln",
"transcript": "ENST00000711455.1",
"protein_id": "ENSP00000518768.1",
"transcript_support_level": null,
"aa_start": 1985,
"aa_end": null,
"aa_length": 2111,
"cds_start": 5954,
"cds_end": null,
"cds_length": 6336,
"cdna_start": 6326,
"cdna_end": null,
"cdna_length": 8027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6032G>A",
"hgvs_p": "p.Arg2011Gln",
"transcript": "ENST00000711483.1",
"protein_id": "ENSP00000518772.1",
"transcript_support_level": null,
"aa_start": 2011,
"aa_end": null,
"aa_length": 2087,
"cds_start": 6032,
"cds_end": null,
"cds_length": 6264,
"cdna_start": 6415,
"cdna_end": null,
"cdna_length": 8401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.6032G>A",
"hgvs_p": null,
"transcript": "ENST00000621827.2",
"protein_id": "ENSP00000518766.1",
"transcript_support_level": 6,
"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": 7899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*1951G>A",
"hgvs_p": null,
"transcript": "ENST00000637236.3",
"protein_id": "ENSP00000492650.2",
"transcript_support_level": 5,
"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": 8222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*1080G>A",
"hgvs_p": null,
"transcript": "ENST00000639478.1",
"protein_id": "ENSP00000491945.1",
"transcript_support_level": 5,
"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": 7992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*3850G>A",
"hgvs_p": null,
"transcript": "ENST00000640028.1",
"protein_id": "ENSP00000491488.1",
"transcript_support_level": 5,
"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": 7375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*5476G>A",
"hgvs_p": null,
"transcript": "ENST00000711442.1",
"protein_id": "ENSP00000518758.1",
"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": 7854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*973G>A",
"hgvs_p": null,
"transcript": "ENST00000711448.1",
"protein_id": "ENSP00000518760.1",
"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": 8394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*891G>A",
"hgvs_p": null,
"transcript": "ENST00000711449.1",
"protein_id": "ENSP00000518761.1",
"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": 8316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*1611G>A",
"hgvs_p": null,
"transcript": "ENST00000711451.1",
"protein_id": "ENSP00000518763.1",
"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": 8878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
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"aa_start": 1834,
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"aa_length": 2176,
"cds_start": 5501,
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"biotype": null,
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},
{
"aa_ref": "R",
"aa_alt": "Q",
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"protein_coding": true,
"strand": true,
"consequences": [
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},
{
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"intron_variant"
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"gene_symbol": "CACNA1H",
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"hgvs_c": "n.1661+797G>A",
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},
{
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],
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"gene_symbol": "CACNA1H",
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"transcript": "ENST00000711490.1",
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"cds_length": null,
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"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"dbsnp": "rs554063452",
"frequency_reference_population": 0.00006740335,
"hom_count_reference_population": 1,
"allele_count_reference_population": 104,
"gnomad_exomes_af": 0.0000639966,
"gnomad_genomes_af": 0.0000985209,
"gnomad_exomes_ac": 89,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12346580624580383,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.251,
"revel_prediction": "Benign",
"alphamissense_score": 0.1009,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.673,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000569107.6",
"gene_symbol": "CACNA1H",
"hgnc_id": 1395,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6047G>A",
"hgvs_p": "p.Arg2016Gln"
}
],
"clinvar_disease": " 6, childhood absence, familial, susceptibility to, type IV,Epilepsy,Hyperaldosteronism,Idiopathic generalized epilepsy,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 B:1",
"phenotype_combined": "Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy|Hyperaldosteronism, familial, type IV;Epilepsy, childhood absence, susceptibility to, 6|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}