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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: 2-111117769-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=111117769&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACOXL",
"hgnc_id": 25621,
"hgvs_c": "c.1786C>T",
"hgvs_p": "p.Arg596Trp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001437600.1",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MIR4435-2HG",
"hgnc_id": 35163,
"hgvs_c": "n.453-80847G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000645030.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 115,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1306,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "2",
"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": 0.08212849497795105,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 1920,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1696,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001142807.4",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1696C>T",
"hgvs_p": "p.Arg566Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000439055.6",
"protein_coding": true,
"protein_id": "NP_001136279.1",
"strand": true,
"transcript": "NM_001142807.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 1920,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1696,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000439055.6",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1696C>T",
"hgvs_p": "p.Arg566Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001142807.4",
"protein_coding": true,
"protein_id": "ENSP00000407761.1",
"strand": true,
"transcript": "ENST00000439055.6",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1828,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000957119.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.Arg610Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627178.1",
"strand": true,
"transcript": "ENST00000957119.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 2030,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000957116.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1813C>T",
"hgvs_p": "p.Arg605Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627175.1",
"strand": true,
"transcript": "ENST00000957116.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 610,
"aa_ref": "R",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1786,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001437600.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1786C>T",
"hgvs_p": "p.Arg596Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424529.1",
"strand": true,
"transcript": "NM_001437600.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 610,
"aa_ref": "R",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1786,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000676595.2",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1786C>T",
"hgvs_p": "p.Arg596Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503683.1",
"strand": true,
"transcript": "ENST00000676595.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 1950,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000957122.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1768C>T",
"hgvs_p": "p.Arg590Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627181.1",
"strand": true,
"transcript": "ENST00000957122.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1696,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000930161.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1696C>T",
"hgvs_p": "p.Arg566Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600220.1",
"strand": true,
"transcript": "ENST00000930161.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 579,
"aa_ref": "R",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1693,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000930163.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1693C>T",
"hgvs_p": "p.Arg565Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600222.1",
"strand": true,
"transcript": "ENST00000930163.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1627,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000930162.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600221.1",
"strand": true,
"transcript": "ENST00000930162.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 552,
"aa_ref": "R",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": 1876,
"cds_end": null,
"cds_length": 1659,
"cds_start": 1612,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000930159.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1612C>T",
"hgvs_p": "p.Arg538Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600218.1",
"strand": true,
"transcript": "ENST00000930159.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 541,
"aa_ref": "R",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000903107.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Arg527Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573166.1",
"strand": true,
"transcript": "ENST00000903107.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 541,
"aa_ref": "R",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000957115.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Arg527Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627174.1",
"strand": true,
"transcript": "ENST00000957115.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 527,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": 1792,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000930160.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1537C>T",
"hgvs_p": "p.Arg513Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600219.1",
"strand": true,
"transcript": "ENST00000930160.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 527,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000957117.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1537C>T",
"hgvs_p": "p.Arg513Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627176.1",
"strand": true,
"transcript": "ENST00000957117.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 513,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 1683,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000957121.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627180.1",
"strand": true,
"transcript": "ENST00000957121.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 506,
"aa_ref": "R",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1474,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000930157.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600216.1",
"strand": true,
"transcript": "ENST00000930157.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 506,
"aa_ref": "R",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 1729,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1474,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000957114.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627173.1",
"strand": true,
"transcript": "ENST00000957114.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 499,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 1721,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000930158.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"hgvs_c": "c.1453C>T",
"hgvs_p": "p.Arg485Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600217.1",
"strand": true,
"transcript": "ENST00000930158.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 488,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000930164.1",
"gene_hgnc_id": 25621,
"gene_symbol": "ACOXL",
"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": "ENSP00000600223.1",
"strand": true,
"transcript": "ENST00000930164.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 478,
"aa_ref": "R",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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