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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: 14-96876111-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=96876111&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 96876111,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001411051.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "NM_003384.3",
"protein_id": "NP_003375.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 396,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": "ENST00000216639.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003384.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000216639.8",
"protein_id": "ENSP00000216639.3",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 396,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": "NM_003384.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216639.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000679770.1",
"protein_id": "ENSP00000505214.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 448,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679770.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000915477.1",
"protein_id": "ENSP00000585536.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 427,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915477.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "NM_001411051.1",
"protein_id": "NP_001397980.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 420,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411051.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000553683.2",
"protein_id": "ENSP00000451412.2",
"transcript_support_level": 3,
"aa_start": 384,
"aa_end": null,
"aa_length": 420,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553683.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000679918.1",
"protein_id": "ENSP00000505439.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 420,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679918.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000680007.1",
"protein_id": "ENSP00000505683.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 420,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680007.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1147A>G",
"hgvs_p": "p.Ile383Val",
"transcript": "ENST00000915473.1",
"protein_id": "ENSP00000585532.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 419,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915473.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1144A>G",
"hgvs_p": "p.Ile382Val",
"transcript": "ENST00000915475.1",
"protein_id": "ENSP00000585534.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 418,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915475.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1141A>G",
"hgvs_p": "p.Ile381Val",
"transcript": "ENST00000915476.1",
"protein_id": "ENSP00000585535.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 417,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915476.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000680683.1",
"protein_id": "ENSP00000506334.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 403,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680683.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1147A>G",
"hgvs_p": "p.Ile383Val",
"transcript": "ENST00000915478.1",
"protein_id": "ENSP00000585537.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 402,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915478.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000679816.1",
"protein_id": "ENSP00000506525.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 396,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679816.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000680756.1",
"protein_id": "ENSP00000506648.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 396,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 2596,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680756.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000681344.1",
"protein_id": "ENSP00000506151.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 396,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681344.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000681355.1",
"protein_id": "ENSP00000506214.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 396,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681355.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000867448.1",
"protein_id": "ENSP00000537507.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 396,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867448.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000915479.1",
"protein_id": "ENSP00000585538.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 396,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 1797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915479.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000915480.1",
"protein_id": "ENSP00000585539.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 396,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915480.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000915484.1",
"protein_id": "ENSP00000585543.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 396,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 6595,
"cdna_end": null,
"cdna_length": 7034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915484.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"transcript": "ENST00000966951.1",
"protein_id": "ENSP00000637010.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 396,
"cds_start": 1150,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.129,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001411051.1",
"gene_symbol": "VRK1",
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ile384Val"
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],
"clinvar_disease": "Congenital pontocerebellar hypoplasia type 1,Inborn genetic diseases,Pontocerebellar hypoplasia type 1A,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not specified|Pontocerebellar hypoplasia type 1A|Congenital pontocerebellar hypoplasia type 1|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}