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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: X-47202412-AAG-CGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47202412&ref=AAG&alt=CGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "UBA1",
"hgnc_id": 12469,
"hgvs_c": "c.1006_1008delAAGinsCGT",
"hgvs_p": "p.Lys336Arg",
"inheritance_mode": "XL,Unknown",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001440807.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 3177,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003334.4",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335972.11",
"protein_coding": true,
"protein_id": "NP_003325.2",
"strand": true,
"transcript": "NM_003334.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 3177,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335972.11",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003334.4",
"protein_coding": true,
"protein_id": "ENSP00000338413.6",
"strand": true,
"transcript": "ENST00000335972.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3466,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 3177,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377351.8",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366568.4",
"strand": true,
"transcript": "ENST00000377351.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "K",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3707,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 3312,
"cds_start": 1099,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880189.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.1099_1101delAAGinsCGT",
"hgvs_p": "p.Lys367Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550248.1",
"strand": true,
"transcript": "ENST00000880189.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 3261,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880195.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550254.1",
"strand": true,
"transcript": "ENST00000880195.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "K",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3619,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 3219,
"cds_start": 1006,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440807.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.1006_1008delAAGinsCGT",
"hgvs_p": "p.Lys336Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427736.1",
"strand": true,
"transcript": "NM_001440807.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 3216,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940362.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610421.1",
"strand": true,
"transcript": "ENST00000940362.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 3216,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940379.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610438.1",
"strand": true,
"transcript": "ENST00000940379.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "K",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 3195,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440809.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.982_984delAAGinsCGT",
"hgvs_p": "p.Lys328Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427738.1",
"strand": true,
"transcript": "NM_001440809.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "K",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": 1235,
"cds_end": null,
"cds_length": 3195,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440810.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.982_984delAAGinsCGT",
"hgvs_p": "p.Lys328Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427739.1",
"strand": true,
"transcript": "NM_001440810.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 3183,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940386.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610445.1",
"strand": true,
"transcript": "ENST00000940386.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3686,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 3177,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440811.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427740.1",
"strand": true,
"transcript": "NM_001440811.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3645,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 3177,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440812.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427741.1",
"strand": true,
"transcript": "NM_001440812.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 3177,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_153280.3",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_695012.1",
"strand": true,
"transcript": "NM_153280.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3428,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 3177,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880170.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550229.1",
"strand": true,
"transcript": "ENST00000880170.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 3177,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880171.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550230.1",
"strand": true,
"transcript": "ENST00000880171.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 3177,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880172.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550231.1",
"strand": true,
"transcript": "ENST00000880172.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3496,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 3177,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880173.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550232.1",
"strand": true,
"transcript": "ENST00000880173.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 3177,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880174.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550233.1",
"strand": true,
"transcript": "ENST00000880174.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3645,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 3177,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880175.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.964_966delAAGinsCGT",
"hgvs_p": "p.Lys322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550234.1",
"strand": true,
"transcript": "ENST00000880175.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 3177,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 26,
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}