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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: 1-154251064-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154251064&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UBAP2L",
"hgnc_id": 29877,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Ala424Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001375612.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 938,
"alphamissense_prediction": null,
"alphamissense_score": 0.0618,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.001936882734298706,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3877,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 3264,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_014847.4",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000428931.6",
"protein_coding": true,
"protein_id": "NP_055662.3",
"strand": true,
"transcript": "NM_014847.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3877,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 3264,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000428931.6",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014847.4",
"protein_coding": true,
"protein_id": "ENSP00000389445.1",
"strand": true,
"transcript": "ENST00000428931.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3864,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 3264,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000361546.6",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355343.2",
"strand": true,
"transcript": "ENST00000361546.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 983,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 2952,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000343815.10",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345308.6",
"strand": true,
"transcript": "ENST00000343815.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "A",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001375612.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Ala424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362541.1",
"strand": true,
"transcript": "NM_001375612.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "A",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4029,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 3345,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881857.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Ala424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551916.1",
"strand": true,
"transcript": "ENST00000881857.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "A",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4200,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 3345,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881869.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Ala424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551928.1",
"strand": true,
"transcript": "ENST00000881869.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "A",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4025,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 3345,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000963339.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Ala424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633398.1",
"strand": true,
"transcript": "ENST00000963339.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3928,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 3315,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001375614.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362543.1",
"strand": true,
"transcript": "NM_001375614.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 3312,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001375615.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362544.1",
"strand": true,
"transcript": "NM_001375615.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3990,
"cdna_start": 1363,
"cds_end": null,
"cds_length": 3312,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001375616.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362545.1",
"strand": true,
"transcript": "NM_001375616.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4299,
"cdna_start": 1302,
"cds_end": null,
"cds_length": 3312,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881849.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551908.1",
"strand": true,
"transcript": "ENST00000881849.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4033,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 3312,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881856.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551915.1",
"strand": true,
"transcript": "ENST00000881856.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3924,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 3312,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000916748.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586807.1",
"strand": true,
"transcript": "ENST00000916748.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4082,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 3312,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000963338.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633397.1",
"strand": true,
"transcript": "ENST00000963338.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1098,
"aa_ref": "A",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4019,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 3297,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881855.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Ala424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551914.1",
"strand": true,
"transcript": "ENST00000881855.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1098,
"aa_ref": "A",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 3297,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881860.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Ala424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551919.1",
"strand": true,
"transcript": "ENST00000881860.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1098,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3936,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3297,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881861.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551920.1",
"strand": true,
"transcript": "ENST00000881861.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1098,
"aa_ref": "A",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3945,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 3297,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881870.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Ala424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551929.1",
"strand": true,
"transcript": "ENST00000881870.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1098,
"aa_ref": "A",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 3297,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000963340.1",
"gene_hgnc_id": 29877,
"gene_symbol": "UBAP2L",
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Ala424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633399.1",
"strand": true,
"transcript": "ENST00000963340.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1097,
"aa_ref": "A",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3907,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 3294,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
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