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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: 3-128481939-GGCCG-AAGGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128481939&ref=GGCCG&alt=AAGGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "GATA2",
"hgnc_id": 4171,
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_032638.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AAGGC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Deafness-lymphedema-leukemia syndrome,Monocytopenia with susceptibility to infections",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145661.2",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000487848.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139133.1",
"strand": false,
"transcript": "NM_001145661.2",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3383,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032638.5",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341105.7",
"protein_coding": true,
"protein_id": "NP_116027.2",
"strand": false,
"transcript": "NM_032638.5",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3383,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341105.7",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032638.5",
"protein_coding": true,
"protein_id": "ENSP00000345681.2",
"strand": false,
"transcript": "ENST00000341105.7",
"transcript_support_level": 1
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000487848.6",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001145661.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417074.1",
"strand": false,
"transcript": "ENST00000487848.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": null,
"cds_end": null,
"cds_length": 1401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000430265.6",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1018-41_1018-37delCGGCCinsGCCTT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400259.2",
"strand": false,
"transcript": "ENST00000430265.6",
"transcript_support_level": 1
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 192,
"aa_ref": "SA",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2010,
"cdna_start": 6,
"cds_end": null,
"cds_length": 579,
"cds_start": 2,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696672.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.2_6delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla1CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512796.1",
"strand": false,
"transcript": "ENST00000696672.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 574,
"aa_ref": "SA",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3798,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1301,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696466.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1301_1305delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla434CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512647.1",
"strand": false,
"transcript": "ENST00000696466.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 1711,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906584.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576643.1",
"strand": false,
"transcript": "ENST00000906584.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3305,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906585.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576644.1",
"strand": false,
"transcript": "ENST00000906585.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 1522,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906587.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576646.1",
"strand": false,
"transcript": "ENST00000906587.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906588.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576647.1",
"strand": false,
"transcript": "ENST00000906588.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906589.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576648.1",
"strand": false,
"transcript": "ENST00000906589.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5013,
"cdna_start": 2997,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906590.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576649.1",
"strand": false,
"transcript": "ENST00000906590.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3170,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906591.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576650.1",
"strand": false,
"transcript": "ENST00000906591.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3854,
"cdna_start": 1838,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906592.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576651.1",
"strand": false,
"transcript": "ENST00000906592.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906593.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576652.1",
"strand": false,
"transcript": "ENST00000906593.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2804,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906594.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576653.1",
"strand": false,
"transcript": "ENST00000906594.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937284.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607343.1",
"strand": false,
"transcript": "ENST00000937284.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3817,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962723.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.1019_1023delCGGCCinsGCCTT",
"hgvs_p": "p.SerAla340CysLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632782.1",
"strand": false,
"transcript": "ENST00000962723.1",
"transcript_support_level": null
},
{
"aa_alt": "CL",
"aa_end": null,
"aa_length": 480,
"aa_ref": "SA",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962724.1",
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}