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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: 11-116849131-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=116849131&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 116849131,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001366686.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3808G>T",
"hgvs_p": "p.Asp1270Tyr",
"transcript": "NM_001366686.3",
"protein_id": "NP_001353615.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3808,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3821,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": "ENST00000445177.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3808G>T",
"hgvs_p": "p.Asp1270Tyr",
"transcript": "ENST00000445177.6",
"protein_id": "ENSP00000391295.2",
"transcript_support_level": 5,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3808,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3821,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": "NM_001366686.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3484G>T",
"hgvs_p": "p.Asp1162Tyr",
"transcript": "ENST00000446921.6",
"protein_id": "ENSP00000390442.2",
"transcript_support_level": 1,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3484,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3506,
"cdna_end": null,
"cdna_length": 3858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "n.*3008G>T",
"hgvs_p": null,
"transcript": "ENST00000415541.5",
"protein_id": "ENSP00000392761.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "n.1677G>T",
"hgvs_p": null,
"transcript": "ENST00000488337.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "n.*3008G>T",
"hgvs_p": null,
"transcript": "ENST00000415541.5",
"protein_id": "ENSP00000392761.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3664G>T",
"hgvs_p": "p.Asp1222Tyr",
"transcript": "NM_025164.6",
"protein_id": "NP_079440.3",
"transcript_support_level": null,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3664,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3677,
"cdna_end": null,
"cdna_length": 6212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3664G>T",
"hgvs_p": "p.Asp1222Tyr",
"transcript": "ENST00000375300.6",
"protein_id": "ENSP00000364449.1",
"transcript_support_level": 2,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3664,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3677,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3484G>T",
"hgvs_p": "p.Asp1162Tyr",
"transcript": "NM_001281749.3",
"protein_id": "NP_001268678.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3484,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3497,
"cdna_end": null,
"cdna_length": 6032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3007G>T",
"hgvs_p": "p.Asp1003Tyr",
"transcript": "NM_001281748.3",
"protein_id": "NP_001268677.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1102,
"cds_start": 3007,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 3621,
"cdna_end": null,
"cdna_length": 6156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Asp3Tyr",
"transcript": "ENST00000454905.5",
"protein_id": "ENSP00000392849.1",
"transcript_support_level": 5,
"aa_start": 3,
"aa_end": null,
"aa_length": 70,
"cds_start": 7,
"cds_end": null,
"cds_length": 213,
"cdna_start": 8,
"cdna_end": null,
"cdna_length": 294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3808G>T",
"hgvs_p": "p.Asp1270Tyr",
"transcript": "XM_047426671.1",
"protein_id": "XP_047282627.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3808,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3821,
"cdna_end": null,
"cdna_length": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3664G>T",
"hgvs_p": "p.Asp1222Tyr",
"transcript": "XM_005271482.5",
"protein_id": "XP_005271539.2",
"transcript_support_level": null,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3664,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3677,
"cdna_end": null,
"cdna_length": 6220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3628G>T",
"hgvs_p": "p.Asp1210Tyr",
"transcript": "XM_011542722.2",
"protein_id": "XP_011541024.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3628,
"cds_end": null,
"cds_length": 3930,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 6184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3520G>T",
"hgvs_p": "p.Asp1174Tyr",
"transcript": "XM_047426672.1",
"protein_id": "XP_047282628.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3520,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3533,
"cdna_end": null,
"cdna_length": 6076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3484G>T",
"hgvs_p": "p.Asp1162Tyr",
"transcript": "XM_005271484.4",
"protein_id": "XP_005271541.2",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3484,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3497,
"cdna_end": null,
"cdna_length": 6040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3340G>T",
"hgvs_p": "p.Asp1114Tyr",
"transcript": "XM_017017424.2",
"protein_id": "XP_016872913.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1213,
"cds_start": 3340,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 3353,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3331G>T",
"hgvs_p": "p.Asp1111Tyr",
"transcript": "XM_011542723.3",
"protein_id": "XP_011541025.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3694,
"cdna_end": null,
"cdna_length": 6237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3331G>T",
"hgvs_p": "p.Asp1111Tyr",
"transcript": "XM_011542724.3",
"protein_id": "XP_011541026.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3548,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3331G>T",
"hgvs_p": "p.Asp1111Tyr",
"transcript": "XM_011542725.3",
"protein_id": "XP_011541027.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3428,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3331G>T",
"hgvs_p": "p.Asp1111Tyr",
"transcript": "XM_017017425.2",
"protein_id": "XP_016872914.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 6833,
"cdna_end": null,
"cdna_length": 9376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3331G>T",
"hgvs_p": "p.Asp1111Tyr",
"transcript": "XM_017017426.2",
"protein_id": "XP_016872915.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 6306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
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],
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{
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}