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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: 4-169585461-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=169585461&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 169585461,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000507142.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "NM_001199397.3",
"protein_id": "NP_001186326.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1286,
"cds_start": 695,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": "ENST00000507142.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "ENST00000507142.6",
"protein_id": "ENSP00000424757.2",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 1286,
"cds_start": 695,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": "NM_001199397.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "ENST00000439128.6",
"protein_id": "ENSP00000408020.2",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 1258,
"cds_start": 695,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "ENST00000511633.5",
"protein_id": "ENSP00000423332.1",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 1242,
"cds_start": 695,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "ENST00000510533.5",
"protein_id": "ENSP00000427653.1",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 1214,
"cds_start": 695,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "ENST00000512193.5",
"protein_id": "ENSP00000424938.1",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 1189,
"cds_start": 695,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 4430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "NM_001374418.1",
"protein_id": "NP_001361347.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1286,
"cds_start": 695,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.722G>T",
"hgvs_p": "p.Arg241Leu",
"transcript": "ENST00000687643.1",
"protein_id": "ENSP00000509309.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1267,
"cds_start": 722,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "NM_001374419.1",
"protein_id": "NP_001361348.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1258,
"cds_start": 695,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "NM_012224.4",
"protein_id": "NP_036356.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1258,
"cds_start": 695,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 6090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "NM_001199398.3",
"protein_id": "NP_001186327.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1242,
"cds_start": 695,
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"cds_length": 3729,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "NM_001374420.1",
"protein_id": "NP_001361349.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1241,
"cds_start": 695,
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"cdna_start": 1229,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.611G>T",
"hgvs_p": "p.Arg204Leu",
"transcript": "ENST00000685111.1",
"protein_id": "ENSP00000508844.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 1230,
"cds_start": 611,
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"cds_length": 3693,
"cdna_start": 1188,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "NM_001440620.1",
"protein_id": "NP_001427549.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "NM_001199400.3",
"protein_id": "NP_001186329.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1214,
"cds_start": 695,
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"cdna_start": 1307,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "NM_001440621.1",
"protein_id": "NP_001427550.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 33,
"intron_rank": null,
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"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "NM_001199399.3",
"protein_id": "NP_001186328.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "NM_001440622.1",
"protein_id": "NP_001427551.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
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"cds_start": 695,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 33,
"intron_rank": null,
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"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "NM_001440623.1",
"protein_id": "NP_001427552.1",
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},
{
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],
"exon_rank": 10,
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"intron_rank": null,
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"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.695G>T",
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"transcript": "NM_001374421.1",
"protein_id": "NP_001361350.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "NEK1",
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"hgvs_p": "p.Arg232Leu",
"transcript": "ENST00000686697.1",
"protein_id": "ENSP00000508689.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.74G>T",
"hgvs_p": "p.Arg25Leu",
"transcript": "NM_001440624.1",
"protein_id": "NP_001427553.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 1051,
"cds_start": 74,
"cds_end": null,
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"cdna_start": 1131,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.74G>T",
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}
],
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}