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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: 17-44148179-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44148179&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HROB",
"hgnc_id": 28460,
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_024032.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0891,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03138691186904907,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 646,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1941,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001171251.3",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000585683.6",
"protein_coding": true,
"protein_id": "NP_001164722.1",
"strand": true,
"transcript": "NM_001171251.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 646,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1941,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000585683.6",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001171251.3",
"protein_coding": true,
"protein_id": "ENSP00000466618.1",
"strand": true,
"transcript": "ENST00000585683.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 647,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2725,
"cdna_start": 613,
"cds_end": null,
"cds_length": 1944,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000319977.8",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313500.4",
"strand": true,
"transcript": "ENST00000319977.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 521,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 497,
"cds_end": null,
"cds_length": 1566,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000245382.6",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000245382.5",
"strand": true,
"transcript": "ENST00000245382.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 584,
"cds_end": null,
"cds_length": 2031,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934744.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604803.1",
"strand": true,
"transcript": "ENST00000934744.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 647,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1944,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_024032.5",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_076937.2",
"strand": true,
"transcript": "NM_024032.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 646,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1941,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910124.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580183.1",
"strand": true,
"transcript": "ENST00000910124.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 645,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2695,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1938,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001321311.2",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308240.1",
"strand": true,
"transcript": "NM_001321311.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 645,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 597,
"cds_end": null,
"cds_length": 1938,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910123.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580182.1",
"strand": true,
"transcript": "ENST00000910123.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 629,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": 536,
"cds_end": null,
"cds_length": 1890,
"cds_start": 325,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000934742.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Thr109Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604801.1",
"strand": true,
"transcript": "ENST00000934742.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 628,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 447,
"cds_end": null,
"cds_length": 1887,
"cds_start": 325,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000934752.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Thr109Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604811.1",
"strand": true,
"transcript": "ENST00000934752.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 619,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1860,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934738.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604797.1",
"strand": true,
"transcript": "ENST00000934738.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 618,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1857,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934733.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604792.1",
"strand": true,
"transcript": "ENST00000934733.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 604,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1815,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934753.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604812.1",
"strand": true,
"transcript": "ENST00000934753.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 600,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 596,
"cds_end": null,
"cds_length": 1803,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934735.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604794.1",
"strand": true,
"transcript": "ENST00000934735.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1800,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910121.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580180.1",
"strand": true,
"transcript": "ENST00000910121.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 583,
"cds_end": null,
"cds_length": 1800,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934745.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604804.1",
"strand": true,
"transcript": "ENST00000934745.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 598,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": 600,
"cds_end": null,
"cds_length": 1797,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934734.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604793.1",
"strand": true,
"transcript": "ENST00000934734.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 581,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2481,
"cdna_start": 569,
"cds_end": null,
"cds_length": 1746,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934748.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604807.1",
"strand": true,
"transcript": "ENST00000934748.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 581,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1746,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934749.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604808.1",
"strand": true,
"transcript": "ENST00000934749.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 572,
"aa_ref": "T",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": 587,
"cds_end": null,
"cds_length": 1719,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934743.1",
"gene_hgnc_id": 28460,
"gene_symbol": "HROB",
"hgvs_c": "c.376A>T",
"hgvs_p": "p.Thr126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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