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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: 2-142885441-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=142885441&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 142885441,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003937.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "NM_003937.3",
"protein_id": "NP_003928.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 465,
"cds_start": 74,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264170.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003937.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000264170.9",
"protein_id": "ENSP00000264170.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 465,
"cds_start": 74,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003937.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264170.9"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000409512.5",
"protein_id": "ENSP00000386731.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 465,
"cds_start": 74,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409512.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000375773.6",
"protein_id": "ENSP00000364928.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 307,
"cds_start": 74,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375773.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000852084.1",
"protein_id": "ENSP00000522143.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 507,
"cds_start": 74,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852084.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000852077.1",
"protein_id": "ENSP00000522136.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 501,
"cds_start": 74,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852077.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "NM_001199241.2",
"protein_id": "NP_001186170.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 465,
"cds_start": 74,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199241.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000852080.1",
"protein_id": "ENSP00000522139.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 465,
"cds_start": 74,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852080.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000852081.1",
"protein_id": "ENSP00000522140.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 465,
"cds_start": 74,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852081.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000852082.1",
"protein_id": "ENSP00000522141.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 465,
"cds_start": 74,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852082.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000852083.1",
"protein_id": "ENSP00000522142.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 465,
"cds_start": 74,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852083.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000852085.1",
"protein_id": "ENSP00000522144.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 465,
"cds_start": 74,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852085.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000852088.1",
"protein_id": "ENSP00000522147.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 465,
"cds_start": 74,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852088.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000852079.1",
"protein_id": "ENSP00000522138.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 443,
"cds_start": 74,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852079.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000852076.1",
"protein_id": "ENSP00000522135.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 416,
"cds_start": 74,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852076.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000852078.1",
"protein_id": "ENSP00000522137.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 416,
"cds_start": 74,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852078.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000852086.1",
"protein_id": "ENSP00000522145.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 416,
"cds_start": 74,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852086.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000852087.1",
"protein_id": "ENSP00000522146.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 416,
"cds_start": 74,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852087.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000970110.1",
"protein_id": "ENSP00000640169.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 394,
"cds_start": 74,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970110.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "NM_001032998.2",
"protein_id": "NP_001028170.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 307,
"cds_start": 74,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032998.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.47C>A",
"hgvs_p": "p.Thr16Lys",
"transcript": "ENST00000621320.4",
"protein_id": "ENSP00000484801.1",
"transcript_support_level": 3,
"aa_start": 16,
"aa_end": null,
"aa_length": 236,
"cds_start": 47,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621320.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.74C>A",
"hgvs_p": "p.Thr25Lys",
"transcript": "ENST00000410015.6",
"protein_id": "ENSP00000387296.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 148,
"cds_start": 74,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410015.6"
},
{
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Uncertain_significance",
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"custom_annotations": null
}
],
"message": null
}