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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: 8-143824349-TGCCGCCGCC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143824349&ref=TGCCGCCGCC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP3",
"BS2"
],
"effects": [
"disruptive_inframe_deletion"
],
"gene_symbol": "PUF60",
"hgnc_id": 17042,
"hgvs_c": "c.177_185delGGCGGCGGC",
"hgvs_p": "p.Ala60_Ala62del",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001362895.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP3,BS2",
"acmg_score": -3,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 559,
"aa_ref": "AAAA",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": 86,
"cds_end": null,
"cds_length": 1680,
"cds_start": 66,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_078480.3",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.66_74delGGCGGCGGC",
"hgvs_p": "p.Ala23_Ala25del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000526683.6",
"protein_coding": true,
"protein_id": "NP_510965.1",
"strand": false,
"transcript": "NM_078480.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 559,
"aa_ref": "AAAA",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": 86,
"cds_end": null,
"cds_length": 1680,
"cds_start": 66,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000526683.6",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.66_74delGGCGGCGGC",
"hgvs_p": "p.Ala23_Ala25del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_078480.3",
"protein_coding": true,
"protein_id": "ENSP00000434359.1",
"strand": false,
"transcript": "ENST00000526683.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 542,
"aa_ref": "AAAA",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": 123,
"cds_end": null,
"cds_length": 1629,
"cds_start": 66,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000349157.10",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.66_74delGGCGGCGGC",
"hgvs_p": "p.Ala23_Ala25del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322036.7",
"strand": false,
"transcript": "ENST00000349157.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 516,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": null,
"cds_end": null,
"cds_length": 1551,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000453551.6",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.-64_-56delGGCGGCGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402953.2",
"strand": false,
"transcript": "ENST00000453551.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 499,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1804,
"cdna_start": null,
"cds_end": null,
"cds_length": 1500,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000313352.11",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.-64_-56delGGCGGCGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322016.7",
"strand": false,
"transcript": "ENST00000313352.11",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 596,
"aa_ref": "AAAA",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": 260,
"cds_end": null,
"cds_length": 1791,
"cds_start": 177,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001362895.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.177_185delGGCGGCGGC",
"hgvs_p": "p.Ala60_Ala62del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349824.1",
"strand": false,
"transcript": "NM_001362895.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 596,
"aa_ref": "AAAA",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 423,
"cds_end": null,
"cds_length": 1791,
"cds_start": 177,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001362896.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.177_185delGGCGGCGGC",
"hgvs_p": "p.Ala60_Ala62del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349825.1",
"strand": false,
"transcript": "NM_001362896.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 596,
"aa_ref": "AAAA",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 261,
"cds_end": null,
"cds_length": 1791,
"cds_start": 177,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000533162.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.177_185delGGCGGCGGC",
"hgvs_p": "p.Ala60_Ala62del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433403.2",
"strand": false,
"transcript": "ENST00000533162.2",
"transcript_support_level": 3
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 596,
"aa_ref": "AAAA",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 423,
"cds_end": null,
"cds_length": 1791,
"cds_start": 177,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000703847.1",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.177_185delGGCGGCGGC",
"hgvs_p": "p.Ala60_Ala62del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515499.1",
"strand": false,
"transcript": "ENST00000703847.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 584,
"aa_ref": "AAAA",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 393,
"cds_end": null,
"cds_length": 1755,
"cds_start": 141,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000533362.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.141_149delGGCGGCGGC",
"hgvs_p": "p.Ala48_Ala50del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515502.1",
"strand": false,
"transcript": "ENST00000533362.2",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 584,
"aa_ref": "AAAA",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 300,
"cds_end": null,
"cds_length": 1755,
"cds_start": 141,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000703850.1",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.141_149delGGCGGCGGC",
"hgvs_p": "p.Ala48_Ala50del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515503.1",
"strand": false,
"transcript": "ENST00000703850.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 579,
"aa_ref": "AAAA",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": 260,
"cds_end": null,
"cds_length": 1740,
"cds_start": 177,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001362897.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.177_185delGGCGGCGGC",
"hgvs_p": "p.Ala60_Ala62del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349826.1",
"strand": false,
"transcript": "NM_001362897.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 559,
"aa_ref": "AAAA",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 921,
"cds_end": null,
"cds_length": 1680,
"cds_start": 66,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000703866.1",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.66_74delGGCGGCGGC",
"hgvs_p": "p.Ala23_Ala25del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515511.1",
"strand": false,
"transcript": "ENST00000703866.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 558,
"aa_ref": "AAAA",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 83,
"cds_end": null,
"cds_length": 1677,
"cds_start": 63,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001271098.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.63_71delGGCGGCGGC",
"hgvs_p": "p.Ala22_Ala24del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258027.1",
"strand": false,
"transcript": "NM_001271098.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 558,
"aa_ref": "AAAA",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 137,
"cds_end": null,
"cds_length": 1677,
"cds_start": 63,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000527744.6",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.63_71delGGCGGCGGC",
"hgvs_p": "p.Ala22_Ala24del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436131.2",
"strand": false,
"transcript": "ENST00000527744.6",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 557,
"aa_ref": "AAAA",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": 114,
"cds_end": null,
"cds_length": 1674,
"cds_start": 66,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000963445.1",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.66_74delGGCGGCGGC",
"hgvs_p": "p.Ala23_Ala25del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633504.1",
"strand": false,
"transcript": "ENST00000963445.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 550,
"aa_ref": "AAAA",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": 95,
"cds_end": null,
"cds_length": 1653,
"cds_start": 66,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000897215.1",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.66_74delGGCGGCGGC",
"hgvs_p": "p.Ala23_Ala25del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567274.1",
"strand": false,
"transcript": "ENST00000897215.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 542,
"aa_ref": "AAAA",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": 86,
"cds_end": null,
"cds_length": 1629,
"cds_start": 66,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_014281.5",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.66_74delGGCGGCGGC",
"hgvs_p": "p.Ala23_Ala25del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055096.2",
"strand": false,
"transcript": "NM_014281.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 541,
"aa_ref": "AAAA",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 83,
"cds_end": null,
"cds_length": 1626,
"cds_start": 63,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001271096.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.63_71delGGCGGCGGC",
"hgvs_p": "p.Ala22_Ala24del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258025.1",
"strand": false,
"transcript": "NM_001271096.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 541,
"aa_ref": "AAAA",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 106,
"cds_end": null,
"cds_length": 1626,
"cds_start": 63,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000526459.6",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.63_71delGGCGGCGGC",
"hgvs_p": "p.Ala22_Ala24del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432610.2",
"strand": false,
"transcript": "ENST00000526459.6",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 540,
"aa_ref": "AAAA",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
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