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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: 14-96876033-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=96876033&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PS3",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "VRK1",
"hgnc_id": 12718,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"inheritance_mode": "AR",
"pathogenic_score": 22,
"score": 22,
"transcript": "NM_001411051.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS3,PM2,PP5_Very_Strong",
"acmg_score": 22,
"allele_count_reference_population": 73,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.55,
"chr": "14",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " autosomal recessive 10, distal hereditary motor,Abnormality of the musculature,Congenital pontocerebellar hypoplasia type 1,Inborn genetic diseases,Neuronopathy,Pontocerebellar hypoplasia type 1A,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14499999582767487,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 396,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_003384.3",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216639.8",
"protein_coding": true,
"protein_id": "NP_003375.1",
"strand": true,
"transcript": "NM_003384.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 396,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000216639.8",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003384.3",
"protein_coding": true,
"protein_id": "ENSP00000216639.3",
"strand": true,
"transcript": "ENST00000216639.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000679770.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505214.1",
"strand": true,
"transcript": "ENST00000679770.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 1284,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000915477.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585536.1",
"strand": true,
"transcript": "ENST00000915477.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 420,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1735,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001411051.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397980.1",
"strand": true,
"transcript": "NM_001411051.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 420,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000553683.2",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451412.2",
"strand": true,
"transcript": "ENST00000553683.2",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 420,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000679918.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505439.1",
"strand": true,
"transcript": "ENST00000679918.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 420,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1525,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000680007.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505683.1",
"strand": true,
"transcript": "ENST00000680007.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 1257,
"cds_start": 1066,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000915475.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1066C>T",
"hgvs_p": "p.Arg356*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585534.1",
"strand": true,
"transcript": "ENST00000915475.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 403,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000680683.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506334.1",
"strand": true,
"transcript": "ENST00000680683.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 396,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000679816.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506525.1",
"strand": true,
"transcript": "ENST00000679816.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 396,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 2518,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000680756.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506648.1",
"strand": true,
"transcript": "ENST00000680756.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 396,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000681344.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506151.1",
"strand": true,
"transcript": "ENST00000681344.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 396,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000681355.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506214.1",
"strand": true,
"transcript": "ENST00000681355.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 396,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000867448.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537507.1",
"strand": true,
"transcript": "ENST00000867448.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 396,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000915479.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585538.1",
"strand": true,
"transcript": "ENST00000915479.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 396,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1796,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000915480.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585539.1",
"strand": true,
"transcript": "ENST00000915480.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_length": 396,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7034,
"cdna_start": 6517,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000915484.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585543.1",
"strand": true,
"transcript": "ENST00000915484.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 396,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000966951.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637010.1",
"strand": true,
"transcript": "ENST00000966951.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1188,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000680724.1",
"gene_hgnc_id": 12718,
"gene_symbol": "VRK1",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504891.1",
"strand": true,
"transcript": "ENST00000680724.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1188,
"cds_start": 1069,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000680849.1",
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