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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: 14-96881181-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=96881181&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 96881181,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001411051.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1164A>C",
"hgvs_p": "p.Ser388Ser",
"transcript": "NM_003384.3",
"protein_id": "NP_003375.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 396,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216639.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003384.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1164A>C",
"hgvs_p": "p.Ser388Ser",
"transcript": "ENST00000216639.8",
"protein_id": "ENSP00000216639.3",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 396,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003384.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216639.8"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1232A>C",
"hgvs_p": "p.Gln411Pro",
"transcript": "ENST00000679770.1",
"protein_id": "ENSP00000505214.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 448,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679770.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1199A>C",
"hgvs_p": "p.Gln400Pro",
"transcript": "ENST00000679462.1",
"protein_id": "ENSP00000506011.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 437,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679462.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.Gln358Pro",
"transcript": "ENST00000680851.1",
"protein_id": "ENSP00000505159.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 395,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680851.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1257A>C",
"hgvs_p": "p.Ser419Ser",
"transcript": "ENST00000915477.1",
"protein_id": "ENSP00000585536.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 427,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915477.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1236A>C",
"hgvs_p": "p.Ser412Ser",
"transcript": "NM_001411051.1",
"protein_id": "NP_001397980.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 420,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411051.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1236A>C",
"hgvs_p": "p.Ser412Ser",
"transcript": "ENST00000553683.2",
"protein_id": "ENSP00000451412.2",
"transcript_support_level": 3,
"aa_start": 412,
"aa_end": null,
"aa_length": 420,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553683.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1236A>C",
"hgvs_p": "p.Ser412Ser",
"transcript": "ENST00000679918.1",
"protein_id": "ENSP00000505439.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 420,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679918.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1236A>C",
"hgvs_p": "p.Ser412Ser",
"transcript": "ENST00000680007.1",
"protein_id": "ENSP00000505683.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 420,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680007.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1233A>C",
"hgvs_p": "p.Ser411Ser",
"transcript": "ENST00000915473.1",
"protein_id": "ENSP00000585532.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 419,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915473.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1230A>C",
"hgvs_p": "p.Ser410Ser",
"transcript": "ENST00000915475.1",
"protein_id": "ENSP00000585534.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 418,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915475.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1227A>C",
"hgvs_p": "p.Ser409Ser",
"transcript": "ENST00000915476.1",
"protein_id": "ENSP00000585535.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 417,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915476.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1185A>C",
"hgvs_p": "p.Ser395Ser",
"transcript": "ENST00000680683.1",
"protein_id": "ENSP00000506334.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 403,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680683.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1182A>C",
"hgvs_p": "p.Ser394Ser",
"transcript": "ENST00000915478.1",
"protein_id": "ENSP00000585537.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 402,
"cds_start": 1182,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915478.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1164A>C",
"hgvs_p": "p.Ser388Ser",
"transcript": "ENST00000679816.1",
"protein_id": "ENSP00000506525.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 396,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679816.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1164A>C",
"hgvs_p": "p.Ser388Ser",
"transcript": "ENST00000680756.1",
"protein_id": "ENSP00000506648.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 396,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680756.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1164A>C",
"hgvs_p": "p.Ser388Ser",
"transcript": "ENST00000681344.1",
"protein_id": "ENSP00000506151.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 396,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681344.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1164A>C",
"hgvs_p": "p.Ser388Ser",
"transcript": "ENST00000681355.1",
"protein_id": "ENSP00000506214.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 396,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681355.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1164A>C",
"hgvs_p": "p.Ser388Ser",
"transcript": "ENST00000867448.1",
"protein_id": "ENSP00000537507.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 396,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867448.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1164A>C",
"hgvs_p": "p.Ser388Ser",
"transcript": "ENST00000915479.1",
"protein_id": "ENSP00000585538.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 396,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915479.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1164A>C",
"hgvs_p": "p.Ser388Ser",
"transcript": "ENST00000915480.1",
"protein_id": "ENSP00000585539.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 396,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.042,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -9,
"acmg_classification": "Benign",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001411051.1",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Inborn genetic diseases,Pontocerebellar hypoplasia type 1A",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Inborn genetic diseases|Pontocerebellar hypoplasia type 1A",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}