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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: 16-1220989-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1220989&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1220989,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000569107.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.7057G>A",
"hgvs_p": "p.Val2353Met",
"transcript": "NM_021098.3",
"protein_id": "NP_066921.2",
"transcript_support_level": null,
"aa_start": 2353,
"aa_end": null,
"aa_length": 2353,
"cds_start": 7057,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 7440,
"cdna_end": null,
"cdna_length": 8219,
"mane_select": "ENST00000348261.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.7057G>A",
"hgvs_p": "p.Val2353Met",
"transcript": "ENST00000348261.11",
"protein_id": "ENSP00000334198.7",
"transcript_support_level": 1,
"aa_start": 2353,
"aa_end": null,
"aa_length": 2353,
"cds_start": 7057,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 7440,
"cdna_end": null,
"cdna_length": 8219,
"mane_select": "NM_021098.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.7072G>A",
"hgvs_p": "p.Val2358Met",
"transcript": "ENST00000569107.6",
"protein_id": "ENSP00000454990.2",
"transcript_support_level": 1,
"aa_start": 2358,
"aa_end": null,
"aa_length": 2358,
"cds_start": 7072,
"cds_end": null,
"cds_length": 7077,
"cdna_start": 7455,
"cdna_end": null,
"cdna_length": 7550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.7042G>A",
"hgvs_p": "p.Val2348Met",
"transcript": "ENST00000711493.1",
"protein_id": "ENSP00000518778.1",
"transcript_support_level": null,
"aa_start": 2348,
"aa_end": null,
"aa_length": 2348,
"cds_start": 7042,
"cds_end": null,
"cds_length": 7047,
"cdna_start": 7425,
"cdna_end": null,
"cdna_length": 8198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.7039G>A",
"hgvs_p": "p.Val2347Met",
"transcript": "ENST00000565831.7",
"protein_id": "ENSP00000455840.1",
"transcript_support_level": 1,
"aa_start": 2347,
"aa_end": null,
"aa_length": 2347,
"cds_start": 7039,
"cds_end": null,
"cds_length": 7044,
"cdna_start": 7420,
"cdna_end": null,
"cdna_length": 8196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.7039G>A",
"hgvs_p": "p.Val2347Met",
"transcript": "ENST00000711450.1",
"protein_id": "ENSP00000518762.1",
"transcript_support_level": null,
"aa_start": 2347,
"aa_end": null,
"aa_length": 2347,
"cds_start": 7039,
"cds_end": null,
"cds_length": 7044,
"cdna_start": 7422,
"cdna_end": null,
"cdna_length": 8201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.7024G>A",
"hgvs_p": "p.Val2342Met",
"transcript": "ENST00000564231.6",
"protein_id": "ENSP00000457555.2",
"transcript_support_level": 1,
"aa_start": 2342,
"aa_end": null,
"aa_length": 2342,
"cds_start": 7024,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 7370,
"cdna_end": null,
"cdna_length": 10507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.7018G>A",
"hgvs_p": "p.Val2340Met",
"transcript": "ENST00000638323.1",
"protein_id": "ENSP00000492267.1",
"transcript_support_level": 5,
"aa_start": 2340,
"aa_end": null,
"aa_length": 2340,
"cds_start": 7018,
"cds_end": null,
"cds_length": 7023,
"cdna_start": 7266,
"cdna_end": null,
"cdna_length": 8048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.7006G>A",
"hgvs_p": "p.Val2336Met",
"transcript": "ENST00000562079.6",
"protein_id": "ENSP00000454581.2",
"transcript_support_level": 1,
"aa_start": 2336,
"aa_end": null,
"aa_length": 2336,
"cds_start": 7006,
"cds_end": null,
"cds_length": 7011,
"cdna_start": 7383,
"cdna_end": null,
"cdna_length": 8162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.7000G>A",
"hgvs_p": "p.Val2334Met",
"transcript": "ENST00000711438.1",
"protein_id": "ENSP00000518754.1",
"transcript_support_level": null,
"aa_start": 2334,
"aa_end": null,
"aa_length": 2334,
"cds_start": 7000,
"cds_end": null,
"cds_length": 7005,
"cdna_start": 7161,
"cdna_end": null,
"cdna_length": 10289,
"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": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*2976G>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": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*2105G>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": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*4875G>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": 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.*6501G>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": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*1998G>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": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*1916G>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,
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"cdna_start": null,
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"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": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*2636G>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": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*1724G>A",
"hgvs_p": null,
"transcript": "ENST00000711452.1",
"protein_id": "ENSP00000518764.1",
"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": 8338,
"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": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*1691G>A",
"hgvs_p": null,
"transcript": "ENST00000711453.1",
"protein_id": "ENSP00000518765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"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.*971G>A",
"hgvs_p": null,
"transcript": "ENST00000711484.1",
"protein_id": "ENSP00000518773.1",
"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,
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"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": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.7057G>A",
"hgvs_p": null,
"transcript": "ENST00000711486.1",
"protein_id": "ENSP00000518775.1",
"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": 9998,
"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.7024G>A",
"hgvs_p": null,
"transcript": "ENST00000711487.1",
"protein_id": "ENSP00000518776.1",
"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": 10418,
"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": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*2173G>A",
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},
{
"aa_ref": "V",
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"protein_coding": true,
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],
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"gene_symbol": "CACNA1H",
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"hgvs_p": "p.Val2176Met",
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},
{
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"protein_coding": false,
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 8,
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"gene_symbol": "CACNA1H",
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},
{
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"non_coding_transcript_exon_variant"
],
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"exon_count": 8,
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"gene_symbol": "CACNA1H",
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"transcript": "ENST00000711490.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "CACNA1H",
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"hgvs_c": "c.*971G>A",
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"transcript": "XM_047434836.1",
"protein_id": "XP_047290792.1",
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"cds_start": -4,
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"cdna_length": 8412,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"dbsnp": "rs150601404",
"frequency_reference_population": 0.00014989819,
"hom_count_reference_population": 0,
"allele_count_reference_population": 236,
"gnomad_exomes_af": 0.000123056,
"gnomad_genomes_af": 0.000400552,
"gnomad_exomes_ac": 175,
"gnomad_genomes_ac": 61,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.017772585153579712,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.227,
"revel_prediction": "Benign",
"alphamissense_score": 0.1258,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.326,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000569107.6",
"gene_symbol": "CACNA1H",
"hgnc_id": 1395,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7072G>A",
"hgvs_p": "p.Val2358Met"
}
],
"clinvar_disease": " familial, type IV,Hyperaldosteronism,Idiopathic generalized epilepsy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Idiopathic generalized epilepsy;Hyperaldosteronism, familial, type IV",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}