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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: 4-169507119-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=169507119&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 169507119,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000507142.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1925C>A",
"hgvs_p": "p.Ala642Glu",
"transcript": "NM_001199397.3",
"protein_id": "NP_001186326.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1925,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 2459,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": "ENST00000507142.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1925C>A",
"hgvs_p": "p.Ala642Glu",
"transcript": "ENST00000507142.6",
"protein_id": "ENSP00000424757.2",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1925,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 2459,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": "NM_001199397.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1841C>A",
"hgvs_p": "p.Ala614Glu",
"transcript": "ENST00000439128.6",
"protein_id": "ENSP00000408020.2",
"transcript_support_level": 1,
"aa_start": 614,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1841,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1793C>A",
"hgvs_p": "p.Ala598Glu",
"transcript": "ENST00000511633.5",
"protein_id": "ENSP00000423332.1",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1793,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1709C>A",
"hgvs_p": "p.Ala570Glu",
"transcript": "ENST00000510533.5",
"protein_id": "ENSP00000427653.1",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 1214,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1634C>A",
"hgvs_p": "p.Ala545Glu",
"transcript": "ENST00000512193.5",
"protein_id": "ENSP00000424938.1",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 1189,
"cds_start": 1634,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 4430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1925C>A",
"hgvs_p": "p.Ala642Glu",
"transcript": "NM_001374418.1",
"protein_id": "NP_001361347.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1925,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1868C>A",
"hgvs_p": "p.Ala623Glu",
"transcript": "ENST00000687643.1",
"protein_id": "ENSP00000509309.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1267,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1841C>A",
"hgvs_p": "p.Ala614Glu",
"transcript": "NM_001374419.1",
"protein_id": "NP_001361348.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1841,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1841C>A",
"hgvs_p": "p.Ala614Glu",
"transcript": "NM_012224.4",
"protein_id": "NP_036356.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1841,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 2453,
"cdna_end": null,
"cdna_length": 6090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1793C>A",
"hgvs_p": "p.Ala598Glu",
"transcript": "NM_001199398.3",
"protein_id": "NP_001186327.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1793,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Ala597Glu",
"transcript": "NM_001374420.1",
"protein_id": "NP_001361349.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1241,
"cds_start": 1790,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 5961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1757C>A",
"hgvs_p": "p.Ala586Glu",
"transcript": "ENST00000685111.1",
"protein_id": "ENSP00000508844.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 1230,
"cds_start": 1757,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 2334,
"cdna_end": null,
"cdna_length": 5923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1925C>A",
"hgvs_p": "p.Ala642Glu",
"transcript": "NM_001440620.1",
"protein_id": "NP_001427549.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 1227,
"cds_start": 1925,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 5997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1709C>A",
"hgvs_p": "p.Ala570Glu",
"transcript": "NM_001199400.3",
"protein_id": "NP_001186329.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1214,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 5958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1841C>A",
"hgvs_p": "p.Ala614Glu",
"transcript": "NM_001440621.1",
"protein_id": "NP_001427550.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 1199,
"cds_start": 1841,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1634C>A",
"hgvs_p": "p.Ala545Glu",
"transcript": "NM_001199399.3",
"protein_id": "NP_001186328.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 1189,
"cds_start": 1634,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 5805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1793C>A",
"hgvs_p": "p.Ala598Glu",
"transcript": "NM_001440622.1",
"protein_id": "NP_001427551.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 1183,
"cds_start": 1793,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 5787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1709C>A",
"hgvs_p": "p.Ala570Glu",
"transcript": "NM_001440623.1",
"protein_id": "NP_001427552.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1155,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 2243,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1220C>A",
"hgvs_p": "p.Ala407Glu",
"transcript": "NM_001440624.1",
"protein_id": "NP_001427553.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 1051,
"cds_start": 1220,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2277,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1088C>A",
"hgvs_p": "p.Ala363Glu",
"transcript": "NM_001440625.1",
"protein_id": "NP_001427554.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 1007,
"cds_start": 1088,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2145,
"cdna_end": null,
"cdna_length": 5782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1793C>A",
"hgvs_p": "p.Ala598Glu",
"transcript": "XM_047415731.1",
"protein_id": "XP_047271687.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1793,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 6042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}