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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: 6-31538847-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31538847&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DDX39B",
"hgnc_id": 13917,
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_004640.7",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ATP6V1G2-DDX39B",
"hgnc_id": 41999,
"hgvs_c": "n.*562A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000376185.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1681,
"cdna_start": 534,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_004640.7",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396172.6",
"protein_coding": true,
"protein_id": "NP_004631.1",
"strand": false,
"transcript": "NM_004640.7",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1681,
"cdna_start": 534,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000396172.6",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004640.7",
"protein_coding": true,
"protein_id": "ENSP00000379475.1",
"strand": false,
"transcript": "ENST00000396172.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": 849,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000458640.5",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416269.1",
"strand": false,
"transcript": "ENST00000458640.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000376185.5",
"gene_hgnc_id": 41999,
"gene_symbol": "ATP6V1G2-DDX39B",
"hgvs_c": "n.*562A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000365356.1",
"strand": false,
"transcript": "ENST00000376185.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000376185.5",
"gene_hgnc_id": 41999,
"gene_symbol": "ATP6V1G2-DDX39B",
"hgvs_c": "n.*562A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000365356.1",
"strand": false,
"transcript": "ENST00000376185.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 456,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1371,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866339.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Val144Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536398.1",
"strand": false,
"transcript": "ENST00000866339.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 456,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 1371,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000963251.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Val144Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633310.1",
"strand": false,
"transcript": "ENST00000963251.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 456,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1371,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000963252.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Val144Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633311.1",
"strand": false,
"transcript": "ENST00000963252.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 434,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1712,
"cdna_start": 540,
"cds_end": null,
"cds_length": 1305,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000923351.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593410.1",
"strand": false,
"transcript": "ENST00000923351.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 404,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_080598.6",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_542165.1",
"strand": false,
"transcript": "NM_080598.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": 447,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866323.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536382.1",
"strand": false,
"transcript": "ENST00000866323.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 551,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000866325.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536384.1",
"strand": false,
"transcript": "ENST00000866325.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 463,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000866326.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536385.1",
"strand": false,
"transcript": "ENST00000866326.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000866327.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536386.1",
"strand": false,
"transcript": "ENST00000866327.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 1771,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866328.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536387.1",
"strand": false,
"transcript": "ENST00000866328.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866329.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536388.1",
"strand": false,
"transcript": "ENST00000866329.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 469,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866330.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536389.1",
"strand": false,
"transcript": "ENST00000866330.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000866331.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536390.1",
"strand": false,
"transcript": "ENST00000866331.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 802,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866332.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536391.1",
"strand": false,
"transcript": "ENST00000866332.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 621,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000866333.1",
"gene_hgnc_id": 13917,
"gene_symbol": "DDX39B",
"hgvs_c": "c.348A>T",
"hgvs_p": "p.Val116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536392.1",
"strand": false,
"transcript": "ENST00000866333.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": 528,
"cds_end": null,
"cds_length": 1287,
"cds_start": 348,
"consequences": [
"synonymous_variant"
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