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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: 2-26289945-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26289945&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HADHB",
"hgnc_id": 4803,
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Pro473Ala",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_000183.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1783,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7392891645431519,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_000183.3",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Pro473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000317799.10",
"protein_coding": true,
"protein_id": "NP_000174.1",
"strand": true,
"transcript": "NM_000183.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000317799.10",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Pro473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000183.3",
"protein_coding": true,
"protein_id": "ENSP00000325136.5",
"strand": true,
"transcript": "ENST00000317799.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "P",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 1577,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1501,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000942431.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1501C>G",
"hgvs_p": "p.Pro501Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612490.1",
"strand": true,
"transcript": "ENST00000942431.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 484,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000942426.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1447C>G",
"hgvs_p": "p.Pro483Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612485.1",
"strand": true,
"transcript": "ENST00000942426.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 483,
"aa_ref": "P",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1630,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000859601.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1444C>G",
"hgvs_p": "p.Pro482Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529660.1",
"strand": true,
"transcript": "ENST00000859601.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 478,
"aa_ref": "P",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000942427.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1429C>G",
"hgvs_p": "p.Pro477Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612486.1",
"strand": true,
"transcript": "ENST00000942427.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000859582.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Pro473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529641.1",
"strand": true,
"transcript": "ENST00000859582.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000859593.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Pro473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529652.1",
"strand": true,
"transcript": "ENST00000859593.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1651,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000859599.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Pro473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529658.1",
"strand": true,
"transcript": "ENST00000859599.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 1725,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000942424.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Pro473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612483.1",
"strand": true,
"transcript": "ENST00000942424.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 1807,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000942425.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Pro473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612484.1",
"strand": true,
"transcript": "ENST00000942425.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000942434.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Pro473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612493.1",
"strand": true,
"transcript": "ENST00000942434.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000942437.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Pro473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612496.1",
"strand": true,
"transcript": "ENST00000942437.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000942440.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Pro473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612499.1",
"strand": true,
"transcript": "ENST00000942440.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000942441.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Pro473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612500.1",
"strand": true,
"transcript": "ENST00000942441.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000942445.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1417C>G",
"hgvs_p": "p.Pro473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612504.1",
"strand": true,
"transcript": "ENST00000942445.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 472,
"aa_ref": "P",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000859584.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1411C>G",
"hgvs_p": "p.Pro471Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529643.1",
"strand": true,
"transcript": "ENST00000859584.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 472,
"aa_ref": "P",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000859587.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1411C>G",
"hgvs_p": "p.Pro471Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529646.1",
"strand": true,
"transcript": "ENST00000859587.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 470,
"aa_ref": "P",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1405,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000942429.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1405C>G",
"hgvs_p": "p.Pro469Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612488.1",
"strand": true,
"transcript": "ENST00000942429.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 468,
"aa_ref": "P",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 1407,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000859600.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1399C>G",
"hgvs_p": "p.Pro467Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529659.1",
"strand": true,
"transcript": "ENST00000859600.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 467,
"aa_ref": "P",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000942435.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"intron_rank": null,
"intron_rank_end": null,
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