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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: 13-100330561-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=100330561&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 100330561,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000376285.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Gly477Asp",
"transcript": "NM_000282.4",
"protein_id": "NP_000273.2",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 728,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "ENST00000376285.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Gly477Asp",
"transcript": "ENST00000376285.6",
"protein_id": "ENSP00000365462.1",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 728,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "NM_000282.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Gly477Asp",
"transcript": "NM_001352605.2",
"protein_id": "NP_001339534.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 710,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Gly451Asp",
"transcript": "NM_001127692.3",
"protein_id": "NP_001121164.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 702,
"cds_start": 1352,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Gly451Asp",
"transcript": "ENST00000376286.8",
"protein_id": "ENSP00000365463.4",
"transcript_support_level": 2,
"aa_start": 451,
"aa_end": null,
"aa_length": 702,
"cds_start": 1352,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Gly477Asp",
"transcript": "NM_001178004.2",
"protein_id": "NP_001171475.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 681,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Gly477Asp",
"transcript": "ENST00000376279.7",
"protein_id": "ENSP00000365456.3",
"transcript_support_level": 2,
"aa_start": 477,
"aa_end": null,
"aa_length": 681,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Gly429Asp",
"transcript": "NM_001352606.2",
"protein_id": "NP_001339535.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 680,
"cds_start": 1286,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Gly451Asp",
"transcript": "NM_001352607.2",
"protein_id": "NP_001339536.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 655,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Gly403Asp",
"transcript": "NM_001352608.2",
"protein_id": "NP_001339537.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 654,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Gly477Asp",
"transcript": "NM_001352609.2",
"protein_id": "NP_001339538.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 640,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Gly363Asp",
"transcript": "ENST00000637657.1",
"protein_id": "ENSP00000489974.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 614,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Gly162Asp",
"transcript": "NM_001352610.2",
"protein_id": "NP_001339539.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 413,
"cds_start": 485,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Gly162Asp",
"transcript": "NM_001352611.2",
"protein_id": "NP_001339540.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 395,
"cds_start": 485,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Gly114Asp",
"transcript": "NM_001352612.2",
"protein_id": "NP_001339541.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 365,
"cds_start": 341,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Gly11Asp",
"transcript": "ENST00000424527.5",
"protein_id": "ENSP00000396050.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 148,
"cds_start": 32,
"cds_end": null,
"cds_length": 447,
"cdna_start": 32,
"cdna_end": null,
"cdna_length": 447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Gly68Asp",
"transcript": "ENST00000443601.1",
"protein_id": "ENSP00000400740.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 137,
"cds_start": 203,
"cds_end": null,
"cds_length": 416,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Gly477Asp",
"transcript": "XM_017020605.2",
"protein_id": "XP_016876094.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 744,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Gly451Asp",
"transcript": "XM_017020606.2",
"protein_id": "XP_016876095.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 718,
"cds_start": 1352,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1331G>A",
"hgvs_p": "p.Gly444Asp",
"transcript": "XM_017020607.2",
"protein_id": "XP_016876096.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 711,
"cds_start": 1331,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2498,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Gly477Asp",
"transcript": "XM_011521093.2",
"protein_id": "XP_011519395.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 699,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1331G>A",
"hgvs_p": "p.Gly444Asp",
"transcript": "XM_017020609.2",
"protein_id": "XP_016876098.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 695,
"cds_start": 1331,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2498,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Pathogenic",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.739,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_score": 5,
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"acmg_by_gene": [
{
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"PM5",
"PP3"
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"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 1,
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"verdict": "Uncertain_significance",
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}
],
"clinvar_disease": "Propionic acidemia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Propionic acidemia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}