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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: 4-169589493-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=169589493&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 169589493,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000507142.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001199397.3",
"protein_id": "NP_001186326.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 1286,
"cds_start": 418,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": "ENST00000507142.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "ENST00000507142.6",
"protein_id": "ENSP00000424757.2",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 1286,
"cds_start": 418,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": "NM_001199397.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "ENST00000439128.6",
"protein_id": "ENSP00000408020.2",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 1258,
"cds_start": 418,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "ENST00000511633.5",
"protein_id": "ENSP00000423332.1",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 1242,
"cds_start": 418,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "ENST00000510533.5",
"protein_id": "ENSP00000427653.1",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 1214,
"cds_start": 418,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "ENST00000512193.5",
"protein_id": "ENSP00000424938.1",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 1189,
"cds_start": 418,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 4430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001374418.1",
"protein_id": "NP_001361347.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 1286,
"cds_start": 418,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Arg",
"transcript": "ENST00000687643.1",
"protein_id": "ENSP00000509309.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1267,
"cds_start": 445,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001374419.1",
"protein_id": "NP_001361348.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 1258,
"cds_start": 418,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_012224.4",
"protein_id": "NP_036356.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 1258,
"cds_start": 418,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 6090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001199398.3",
"protein_id": "NP_001186327.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 1242,
"cds_start": 418,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001374420.1",
"protein_id": "NP_001361349.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 1241,
"cds_start": 418,
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"cds_length": 3726,
"cdna_start": 952,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Arg",
"transcript": "ENST00000685111.1",
"protein_id": "ENSP00000508844.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1230,
"cds_start": 334,
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"cds_length": 3693,
"cdna_start": 911,
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"cdna_length": 5923,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001440620.1",
"protein_id": "NP_001427549.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001199400.3",
"protein_id": "NP_001186329.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 1214,
"cds_start": 418,
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"cdna_start": 1030,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001440621.1",
"protein_id": "NP_001427550.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 7,
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"exon_count": 33,
"intron_rank": null,
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"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001199399.3",
"protein_id": "NP_001186328.1",
"transcript_support_level": null,
"aa_start": 140,
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"aa_length": 1189,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001440622.1",
"protein_id": "NP_001427551.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 1183,
"cds_start": 418,
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"cdna_start": 952,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001440623.1",
"protein_id": "NP_001427552.1",
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"aa_end": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 7,
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"intron_rank": null,
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"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001374421.1",
"protein_id": "NP_001361350.1",
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"aa_end": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 7,
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"intron_rank": null,
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"gene_symbol": "NEK1",
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"hgvs_c": "c.418G>A",
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"transcript": "ENST00000686697.1",
"protein_id": "ENSP00000508689.1",
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001374422.1",
"protein_id": "NP_001361351.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 423,
"cds_start": 418,
"cds_end": null,
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"cdna_start": 952,
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"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"transcript": "NM_001374423.1",
"protein_id": "NP_001361352.1",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": " 24, susceptibility to,Amyotrophic lateral sclerosis,Mohr syndrome,Short-rib thoracic dysplasia 6 with or without polydactyly,Type IV short rib polydactyly syndrome",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Mohr syndrome;Amyotrophic lateral sclerosis, susceptibility to, 24;Short-rib thoracic dysplasia 6 with or without polydactyly|Type IV short rib polydactyly syndrome|Short-rib thoracic dysplasia 6 with or without polydactyly",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}