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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: 22-50246704-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50246704&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HDAC10",
"hgnc_id": 18128,
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Arg516Trp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_032019.6",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "MAPK12",
"hgnc_id": 6874,
"hgvs_c": "n.5818C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000497036.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288871",
"hgnc_id": null,
"hgvs_c": "n.2095G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000685176.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.105,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.053261011838912964,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 1779,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1546,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_032019.6",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Arg516Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216271.10",
"protein_coding": true,
"protein_id": "NP_114408.3",
"strand": false,
"transcript": "NM_032019.6",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 1779,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1546,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000216271.10",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Arg516Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032019.6",
"protein_coding": true,
"protein_id": "ENSP00000216271.5",
"strand": false,
"transcript": "ENST00000216271.10",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 649,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000349505.4",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343540.4",
"strand": false,
"transcript": "ENST00000349505.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2375,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000415993.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*1067C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000397517.1",
"strand": false,
"transcript": "ENST00000415993.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000429374.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*730C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407640.1",
"strand": false,
"transcript": "ENST00000429374.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2375,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000415993.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*1067C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000397517.1",
"strand": false,
"transcript": "ENST00000415993.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000429374.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "n.*730C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407640.1",
"strand": false,
"transcript": "ENST00000429374.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 668,
"aa_ref": "R",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1546,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000895908.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Arg516Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565967.1",
"strand": false,
"transcript": "ENST00000895908.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 664,
"aa_ref": "R",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 1779,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1546,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000895903.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Arg516Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565962.1",
"strand": false,
"transcript": "ENST00000895903.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 661,
"aa_ref": "R",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 1736,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000895906.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565965.1",
"strand": false,
"transcript": "ENST00000895906.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 657,
"aa_ref": "R",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1510,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000895900.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1510C>T",
"hgvs_p": "p.Arg504Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565959.1",
"strand": false,
"transcript": "ENST00000895900.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 649,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001159286.2",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001152758.1",
"strand": false,
"transcript": "NM_001159286.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1480,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000895901.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1480C>T",
"hgvs_p": "p.Arg494Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565960.1",
"strand": false,
"transcript": "ENST00000895901.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 637,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1450,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000895907.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565966.1",
"strand": false,
"transcript": "ENST00000895907.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 631,
"aa_ref": "R",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2427,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1432,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000948609.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1432C>T",
"hgvs_p": "p.Arg478Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618668.1",
"strand": false,
"transcript": "ENST00000948609.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 627,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000895902.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Arg474Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565961.1",
"strand": false,
"transcript": "ENST00000895902.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 623,
"aa_ref": "R",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1408,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000895905.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Arg470Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565964.1",
"strand": false,
"transcript": "ENST00000895905.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000448072.5",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397542.1",
"strand": false,
"transcript": "ENST00000448072.5",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000895904.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1351C>T",
"hgvs_p": "p.Arg451Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565963.1",
"strand": false,
"transcript": "ENST00000895904.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 532,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2142,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000948608.1",
"gene_hgnc_id": 18128,
"gene_symbol": "HDAC10",
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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