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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: 4-169406685-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=169406685&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 169406685,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001199397.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3285C>T",
"hgvs_p": "p.Pro1095Pro",
"transcript": "NM_001199397.3",
"protein_id": "NP_001186326.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3285,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000507142.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199397.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3285C>T",
"hgvs_p": "p.Pro1095Pro",
"transcript": "ENST00000507142.6",
"protein_id": "ENSP00000424757.2",
"transcript_support_level": 1,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3285,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199397.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507142.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3201C>T",
"hgvs_p": "p.Pro1067Pro",
"transcript": "ENST00000439128.6",
"protein_id": "ENSP00000408020.2",
"transcript_support_level": 1,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3201,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439128.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3153C>T",
"hgvs_p": "p.Pro1051Pro",
"transcript": "ENST00000511633.5",
"protein_id": "ENSP00000423332.1",
"transcript_support_level": 1,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511633.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3069C>T",
"hgvs_p": "p.Pro1023Pro",
"transcript": "ENST00000510533.5",
"protein_id": "ENSP00000427653.1",
"transcript_support_level": 1,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510533.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2994C>T",
"hgvs_p": "p.Pro998Pro",
"transcript": "ENST00000512193.5",
"protein_id": "ENSP00000424938.1",
"transcript_support_level": 1,
"aa_start": 998,
"aa_end": null,
"aa_length": 1189,
"cds_start": 2994,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512193.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3285C>T",
"hgvs_p": "p.Pro1095Pro",
"transcript": "NM_001374418.1",
"protein_id": "NP_001361347.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3285,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374418.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3285C>T",
"hgvs_p": "p.Pro1095Pro",
"transcript": "ENST00000937788.1",
"protein_id": "ENSP00000607847.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3285,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937788.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3228C>T",
"hgvs_p": "p.Pro1076Pro",
"transcript": "ENST00000687643.1",
"protein_id": "ENSP00000509309.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3228,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687643.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3201C>T",
"hgvs_p": "p.Pro1067Pro",
"transcript": "NM_001374419.1",
"protein_id": "NP_001361348.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3201,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374419.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3201C>T",
"hgvs_p": "p.Pro1067Pro",
"transcript": "NM_012224.4",
"protein_id": "NP_036356.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3201,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012224.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3201C>T",
"hgvs_p": "p.Pro1067Pro",
"transcript": "ENST00000859054.1",
"protein_id": "ENSP00000529113.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3201,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859054.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3153C>T",
"hgvs_p": "p.Pro1051Pro",
"transcript": "NM_001199398.3",
"protein_id": "NP_001186327.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199398.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3150C>T",
"hgvs_p": "p.Pro1050Pro",
"transcript": "NM_001374420.1",
"protein_id": "NP_001361349.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374420.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3117C>T",
"hgvs_p": "p.Pro1039Pro",
"transcript": "ENST00000685111.1",
"protein_id": "ENSP00000508844.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3117,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685111.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3108C>T",
"hgvs_p": "p.Pro1036Pro",
"transcript": "NM_001440620.1",
"protein_id": "NP_001427549.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1227,
"cds_start": 3108,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440620.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3069C>T",
"hgvs_p": "p.Pro1023Pro",
"transcript": "NM_001199400.3",
"protein_id": "NP_001186329.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199400.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3069C>T",
"hgvs_p": "p.Pro1023Pro",
"transcript": "ENST00000859053.1",
"protein_id": "ENSP00000529112.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3069,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859053.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.3024C>T",
"hgvs_p": "p.Pro1008Pro",
"transcript": "NM_001440621.1",
"protein_id": "NP_001427550.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3024,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440621.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2994C>T",
"hgvs_p": "p.Pro998Pro",
"transcript": "NM_001199399.3",
"protein_id": "NP_001186328.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1189,
"cds_start": 2994,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199399.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2976C>T",
"hgvs_p": "p.Pro992Pro",
"transcript": "NM_001440622.1",
"protein_id": "NP_001427551.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1183,
"cds_start": 2976,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440622.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2892C>T",
"hgvs_p": "p.Pro964Pro",
"transcript": "NM_001440623.1",
"protein_id": "NP_001427552.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1155,
"cds_start": 2892,
"cds_end": null,
"cds_length": 3468,
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"phenotype_combined": "not provided|Short-rib thoracic dysplasia 6 with or without polydactyly|NEK1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}