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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: 22-20709708-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20709708&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20709708,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_058004.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 53,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6173+200G>A",
"hgvs_p": null,
"transcript": "NM_058004.4",
"protein_id": "NP_477352.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2102,
"cds_start": null,
"cds_end": null,
"cds_length": 6309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000255882.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058004.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 53,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6173+200G>A",
"hgvs_p": null,
"transcript": "ENST00000255882.11",
"protein_id": "ENSP00000255882.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2102,
"cds_start": null,
"cds_end": null,
"cds_length": 6309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_058004.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255882.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "n.2546+200G>A",
"hgvs_p": null,
"transcript": "ENST00000477245.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477245.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": 54,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6209+200G>A",
"hgvs_p": null,
"transcript": "ENST00000939414.1",
"protein_id": "ENSP00000609473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2114,
"cds_start": null,
"cds_end": null,
"cds_length": 6345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 53,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6173+200G>A",
"hgvs_p": null,
"transcript": "ENST00000939412.1",
"protein_id": "ENSP00000609471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2106,
"cds_start": null,
"cds_end": null,
"cds_length": 6321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939412.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 53,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6167+200G>A",
"hgvs_p": null,
"transcript": "ENST00000957004.1",
"protein_id": "ENSP00000627063.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2100,
"cds_start": null,
"cds_end": null,
"cds_length": 6303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957004.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 53,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6161+200G>A",
"hgvs_p": null,
"transcript": "ENST00000939415.1",
"protein_id": "ENSP00000609474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2098,
"cds_start": null,
"cds_end": null,
"cds_length": 6297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939415.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 53,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6152+200G>A",
"hgvs_p": null,
"transcript": "ENST00000880812.1",
"protein_id": "ENSP00000550871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2095,
"cds_start": null,
"cds_end": null,
"cds_length": 6288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880812.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 53,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6143+200G>A",
"hgvs_p": null,
"transcript": "ENST00000939409.1",
"protein_id": "ENSP00000609468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2092,
"cds_start": null,
"cds_end": null,
"cds_length": 6279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939409.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 53,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6113+200G>A",
"hgvs_p": null,
"transcript": "ENST00000939416.1",
"protein_id": "ENSP00000609475.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2082,
"cds_start": null,
"cds_end": null,
"cds_length": 6249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939416.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 52,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6107+200G>A",
"hgvs_p": null,
"transcript": "NM_001362863.2",
"protein_id": "NP_001349792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2080,
"cds_start": null,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362863.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 52,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6107+200G>A",
"hgvs_p": null,
"transcript": "ENST00000880811.1",
"protein_id": "ENSP00000550870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2080,
"cds_start": null,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880811.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 52,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6083+200G>A",
"hgvs_p": null,
"transcript": "ENST00000939410.1",
"protein_id": "ENSP00000609469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2072,
"cds_start": null,
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"cds_length": 6219,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939410.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 52,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6080+200G>A",
"hgvs_p": null,
"transcript": "NM_001362862.2",
"protein_id": "NP_001349791.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362862.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 52,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6080+200G>A",
"hgvs_p": null,
"transcript": "ENST00000939411.1",
"protein_id": "ENSP00000609470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2071,
"cds_start": null,
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"cds_length": 6216,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939411.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 52,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6077+200G>A",
"hgvs_p": null,
"transcript": "ENST00000939413.1",
"protein_id": "ENSP00000609472.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000939413.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 52,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6080+200G>A",
"hgvs_p": null,
"transcript": "ENST00000957003.1",
"protein_id": "ENSP00000627062.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2069,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957003.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 52,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6056+200G>A",
"hgvs_p": null,
"transcript": "ENST00000880813.1",
"protein_id": "ENSP00000550872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2063,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880813.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.6014+200G>A",
"hgvs_p": null,
"transcript": "ENST00000957001.1",
"protein_id": "ENSP00000627060.1",
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"biotype": "protein_coding",
"feature": "ENST00000957001.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.5990+200G>A",
"hgvs_p": null,
"transcript": "ENST00000957002.1",
"protein_id": "ENSP00000627061.1",
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"biotype": "protein_coding",
"feature": "ENST00000957002.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.1172+200G>A",
"hgvs_p": null,
"transcript": "ENST00000399213.2",
"protein_id": "ENSP00000382162.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": null,
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"cds_length": 1308,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399213.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.5429+200G>A",
"hgvs_p": null,
"transcript": "XM_005261635.2",
"protein_id": "XP_005261692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1854,
"cds_start": null,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261635.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 32,
"intron_rank_end": null,
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"transcript": "XM_047441410.1",
"protein_id": "XP_047297366.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 1171,
"cds_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441410.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 11,
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"gene_symbol": "PI4KA",
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"hgvs_c": "n.2510+200G>A",
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"transcript": "ENST00000466772.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000466772.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
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"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "n.3435+200G>A",
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"transcript": "ENST00000492581.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492581.5"
}
],
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"dbsnp": "rs435091",
"frequency_reference_population": 0.36976337,
"hom_count_reference_population": 5574,
"allele_count_reference_population": 30098,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.369763,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 30098,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 5574,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.133,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_058004.4",
"gene_symbol": "PI4KA",
"hgnc_id": 8983,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6173+200G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}