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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: 3-58531723-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=58531723&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ACOX2",
"hgnc_id": 120,
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_003500.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 836,
"cds_end": null,
"cds_length": 2046,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_003500.4",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000302819.10",
"protein_coding": true,
"protein_id": "NP_003491.1",
"strand": false,
"transcript": "NM_003500.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 836,
"cds_end": null,
"cds_length": 2046,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000302819.10",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003500.4",
"protein_coding": true,
"protein_id": "ENSP00000307697.5",
"strand": false,
"transcript": "ENST00000302819.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 705,
"aa_ref": "R",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 908,
"cds_end": null,
"cds_length": 2118,
"cds_start": 745,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900718.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.745C>A",
"hgvs_p": "p.Arg249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570777.1",
"strand": false,
"transcript": "ENST00000900718.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 689,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 840,
"cds_end": null,
"cds_length": 2070,
"cds_start": 697,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900721.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.697C>A",
"hgvs_p": "p.Arg233Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570780.1",
"strand": false,
"transcript": "ENST00000900721.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 682,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2276,
"cdna_start": 811,
"cds_end": null,
"cds_length": 2049,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900725.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570784.1",
"strand": false,
"transcript": "ENST00000900725.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 2046,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900712.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570771.1",
"strand": false,
"transcript": "ENST00000900712.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2590,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 2046,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900713.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570772.1",
"strand": false,
"transcript": "ENST00000900713.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 2046,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900714.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570773.1",
"strand": false,
"transcript": "ENST00000900714.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 2046,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900715.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570774.1",
"strand": false,
"transcript": "ENST00000900715.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 857,
"cds_end": null,
"cds_length": 2046,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900717.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570776.1",
"strand": false,
"transcript": "ENST00000900717.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 938,
"cds_end": null,
"cds_length": 2046,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900720.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570779.1",
"strand": false,
"transcript": "ENST00000900720.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 809,
"cds_end": null,
"cds_length": 2046,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900727.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570786.1",
"strand": false,
"transcript": "ENST00000900727.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 859,
"cds_end": null,
"cds_length": 2046,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900732.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570791.1",
"strand": false,
"transcript": "ENST00000900732.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 670,
"aa_ref": "R",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2217,
"cdna_start": 760,
"cds_end": null,
"cds_length": 2013,
"cds_start": 640,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900728.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.640C>A",
"hgvs_p": "p.Arg214Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570787.1",
"strand": false,
"transcript": "ENST00000900728.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 929,
"cds_end": null,
"cds_length": 2004,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000459701.6",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418562.2",
"strand": false,
"transcript": "ENST00000459701.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2401,
"cdna_start": 982,
"cds_end": null,
"cds_length": 2004,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900722.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570781.1",
"strand": false,
"transcript": "ENST00000900722.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 964,
"cds_end": null,
"cds_length": 2004,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900724.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570783.1",
"strand": false,
"transcript": "ENST00000900724.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 918,
"cds_end": null,
"cds_length": 2004,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900729.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570788.1",
"strand": false,
"transcript": "ENST00000900729.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 815,
"cds_end": null,
"cds_length": 2004,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900730.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570789.1",
"strand": false,
"transcript": "ENST00000900730.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 2004,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900731.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570790.1",
"strand": false,
"transcript": "ENST00000900731.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 646,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2166,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1941,
"cds_start": 673,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900726.1",
"gene_hgnc_id": 120,
"gene_symbol": "ACOX2",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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