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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: 14-96881177-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=96881177&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 96881177,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000216639.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1160G>A",
"hgvs_p": "p.Arg387His",
"transcript": "NM_003384.3",
"protein_id": "NP_003375.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 396,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": "ENST00000216639.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1160G>A",
"hgvs_p": "p.Arg387His",
"transcript": "ENST00000216639.8",
"protein_id": "ENSP00000216639.3",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 396,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": "NM_003384.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1181G>A",
"hgvs_p": "p.Gly394Asp",
"transcript": "ENST00000680683.1",
"protein_id": "ENSP00000506334.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 403,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1228G>A",
"hgvs_p": "p.Val410Ile",
"transcript": "ENST00000679770.1",
"protein_id": "ENSP00000505214.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 448,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1195G>A",
"hgvs_p": "p.Val399Ile",
"transcript": "ENST00000679462.1",
"protein_id": "ENSP00000506011.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 437,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1232G>A",
"hgvs_p": "p.Ser411Asn",
"transcript": "NM_001411051.1",
"protein_id": "NP_001397980.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 420,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1232G>A",
"hgvs_p": "p.Ser411Asn",
"transcript": "ENST00000553683.2",
"protein_id": "ENSP00000451412.2",
"transcript_support_level": 3,
"aa_start": 411,
"aa_end": null,
"aa_length": 420,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1232G>A",
"hgvs_p": "p.Ser411Asn",
"transcript": "ENST00000679918.1",
"protein_id": "ENSP00000505439.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 420,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1232G>A",
"hgvs_p": "p.Ser411Asn",
"transcript": "ENST00000680007.1",
"protein_id": "ENSP00000505683.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 420,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1160G>A",
"hgvs_p": "p.Arg387His",
"transcript": "ENST00000679816.1",
"protein_id": "ENSP00000506525.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 396,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1160G>A",
"hgvs_p": "p.Arg387His",
"transcript": "ENST00000680756.1",
"protein_id": "ENSP00000506648.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 396,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1160G>A",
"hgvs_p": "p.Arg387His",
"transcript": "ENST00000681344.1",
"protein_id": "ENSP00000506151.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 396,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1160G>A",
"hgvs_p": "p.Arg387His",
"transcript": "ENST00000681355.1",
"protein_id": "ENSP00000506214.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 396,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1157G>A",
"hgvs_p": "p.Arg386His",
"transcript": "NM_001411053.1",
"protein_id": "NP_001397982.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 395,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 1660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1157G>A",
"hgvs_p": "p.Arg386His",
"transcript": "ENST00000680849.1",
"protein_id": "ENSP00000505602.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 395,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1069G>A",
"hgvs_p": "p.Val357Ile",
"transcript": "ENST00000680851.1",
"protein_id": "ENSP00000505159.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 395,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1157G>A",
"hgvs_p": "p.Arg386His",
"transcript": "ENST00000681195.1",
"protein_id": "ENSP00000504933.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 395,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1157G>A",
"hgvs_p": "p.Arg386His",
"transcript": "ENST00000681249.1",
"protein_id": "ENSP00000506013.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 395,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000679727.1",
"protein_id": "ENSP00000505844.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 394,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000681493.1",
"protein_id": "ENSP00000506429.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 394,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1151G>A",
"hgvs_p": "p.Arg384His",
"transcript": "ENST00000679903.1",
"protein_id": "ENSP00000506022.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 393,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.1070G>A",
"hgvs_p": "p.Arg357His",
"transcript": "ENST00000680538.1",
"protein_id": "ENSP00000505611.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 366,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 1435,
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2",
"phenotype_combined": "Inborn genetic diseases|Neuronopathy, distal hereditary motor, autosomal recessive 10|Pontocerebellar hypoplasia type 1A|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
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}
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}