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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: 11-72822121-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72822121&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": [
"missense_variant"
],
"gene_symbol": "ATG16L2",
"hgnc_id": 25464,
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_033388.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 26,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0949,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "11",
"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": 0.2161778211593628,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 505,
"cds_end": null,
"cds_length": 1860,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_033388.2",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000321297.10",
"protein_coding": true,
"protein_id": "NP_203746.1",
"strand": true,
"transcript": "NM_033388.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 505,
"cds_end": null,
"cds_length": 1860,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000321297.10",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033388.2",
"protein_coding": true,
"protein_id": "ENSP00000326340.5",
"strand": true,
"transcript": "ENST00000321297.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 164,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1614,
"cdna_start": null,
"cds_end": null,
"cds_length": 495,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534905.5",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.318+4266G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441189.1",
"strand": true,
"transcript": "ENST00000534905.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3841,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000439504.6",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "n.497G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000439504.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 520,
"cds_end": null,
"cds_length": 1851,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867653.1",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537712.1",
"strand": true,
"transcript": "ENST00000867653.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1797,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867652.1",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537711.1",
"strand": true,
"transcript": "ENST00000867652.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 595,
"aa_ref": "R",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2043,
"cdna_start": 484,
"cds_end": null,
"cds_length": 1788,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000949596.1",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619655.1",
"strand": true,
"transcript": "ENST00000949596.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 581,
"aa_ref": "R",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": 520,
"cds_end": null,
"cds_length": 1746,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000949594.1",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619653.1",
"strand": true,
"transcript": "ENST00000949594.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 567,
"aa_ref": "R",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 532,
"cds_end": null,
"cds_length": 1704,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000914046.1",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584105.1",
"strand": true,
"transcript": "ENST00000914046.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 520,
"cds_end": null,
"cds_length": 1683,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000914047.1",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584106.1",
"strand": true,
"transcript": "ENST00000914047.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 546,
"aa_ref": "R",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 485,
"cds_end": null,
"cds_length": 1641,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000949597.1",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619656.1",
"strand": true,
"transcript": "ENST00000949597.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 513,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 625,
"cds_end": null,
"cds_length": 1542,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001318766.2",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305695.1",
"strand": true,
"transcript": "NM_001318766.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2931,
"cdna_start": 505,
"cds_end": null,
"cds_length": 1815,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005274376.6",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274433.1",
"strand": true,
"transcript": "XM_005274376.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 505,
"cds_end": null,
"cds_length": 1797,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006718732.3",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006718795.1",
"strand": true,
"transcript": "XM_006718732.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 581,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2026,
"cdna_start": 505,
"cds_end": null,
"cds_length": 1746,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011545332.2",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543634.1",
"strand": true,
"transcript": "XM_011545332.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 566,
"aa_ref": "R",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2817,
"cdna_start": 505,
"cds_end": null,
"cds_length": 1701,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047427840.1",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283796.1",
"strand": true,
"transcript": "XM_047427840.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 513,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1542,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011545333.2",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543635.1",
"strand": true,
"transcript": "XM_011545333.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 513,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2005,
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"cds_end": null,
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"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011545334.2",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543636.1",
"strand": true,
"transcript": "XM_011545334.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 472,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 505,
"cds_end": null,
"cds_length": 1419,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047427841.1",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283797.1",
"strand": true,
"transcript": "XM_047427841.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "R",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1161,
"cdna_start": 505,
"cds_end": null,
"cds_length": 1023,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006718733.4",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.470G>T",
"hgvs_p": "p.Arg157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006718796.1",
"strand": true,
"transcript": "XM_006718733.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 461,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1641,
"cdna_start": null,
"cds_end": null,
"cds_length": 1386,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949595.1",
"gene_hgnc_id": 25464,
"gene_symbol": "ATG16L2",
"hgvs_c": "c.319-1645G>T",
"hgvs_p": null,
"intron_rank": 3,
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