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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: 13-100309902-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=100309902&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 100309902,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000376285.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Ile475Val",
"transcript": "NM_000282.4",
"protein_id": "NP_000273.2",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 728,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "ENST00000376285.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Ile475Val",
"transcript": "ENST00000376285.6",
"protein_id": "ENSP00000365462.1",
"transcript_support_level": 1,
"aa_start": 475,
"aa_end": null,
"aa_length": 728,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "NM_000282.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1423A>G",
"hgvs_p": "p.Ile475Val",
"transcript": "NM_001352605.2",
"protein_id": "NP_001339534.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 710,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1345A>G",
"hgvs_p": "p.Ile449Val",
"transcript": "NM_001127692.3",
"protein_id": "NP_001121164.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 702,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1345A>G",
"hgvs_p": "p.Ile449Val",
"transcript": "ENST00000376286.8",
"protein_id": "ENSP00000365463.4",
"transcript_support_level": 2,
"aa_start": 449,
"aa_end": null,
"aa_length": 702,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1423A>G",
"hgvs_p": "p.Ile475Val",
"transcript": "NM_001178004.2",
"protein_id": "NP_001171475.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 681,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1423A>G",
"hgvs_p": "p.Ile475Val",
"transcript": "ENST00000376279.7",
"protein_id": "ENSP00000365456.3",
"transcript_support_level": 2,
"aa_start": 475,
"aa_end": null,
"aa_length": 681,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1279A>G",
"hgvs_p": "p.Ile427Val",
"transcript": "NM_001352606.2",
"protein_id": "NP_001339535.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 680,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1345A>G",
"hgvs_p": "p.Ile449Val",
"transcript": "NM_001352607.2",
"protein_id": "NP_001339536.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 655,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1201A>G",
"hgvs_p": "p.Ile401Val",
"transcript": "NM_001352608.2",
"protein_id": "NP_001339537.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 654,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1423A>G",
"hgvs_p": "p.Ile475Val",
"transcript": "NM_001352609.2",
"protein_id": "NP_001339538.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 640,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1081A>G",
"hgvs_p": "p.Ile361Val",
"transcript": "ENST00000637657.1",
"protein_id": "ENSP00000489974.1",
"transcript_support_level": 5,
"aa_start": 361,
"aa_end": null,
"aa_length": 614,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.478A>G",
"hgvs_p": "p.Ile160Val",
"transcript": "NM_001352610.2",
"protein_id": "NP_001339539.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 413,
"cds_start": 478,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.478A>G",
"hgvs_p": "p.Ile160Val",
"transcript": "NM_001352611.2",
"protein_id": "NP_001339540.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 395,
"cds_start": 478,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.334A>G",
"hgvs_p": "p.Ile112Val",
"transcript": "NM_001352612.2",
"protein_id": "NP_001339541.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 365,
"cds_start": 334,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.196A>G",
"hgvs_p": "p.Ile66Val",
"transcript": "ENST00000443601.1",
"protein_id": "ENSP00000400740.1",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 137,
"cds_start": 196,
"cds_end": null,
"cds_length": 416,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1423A>G",
"hgvs_p": "p.Ile475Val",
"transcript": "XM_017020605.2",
"protein_id": "XP_016876094.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 744,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1345A>G",
"hgvs_p": "p.Ile449Val",
"transcript": "XM_017020606.2",
"protein_id": "XP_016876095.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 718,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1324A>G",
"hgvs_p": "p.Ile442Val",
"transcript": "XM_017020607.2",
"protein_id": "XP_016876096.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 711,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2491,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1423A>G",
"hgvs_p": "p.Ile475Val",
"transcript": "XM_011521093.2",
"protein_id": "XP_011519395.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 699,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Ile442Val",
"transcript": "XM_017020609.2",
"protein_id": "XP_016876098.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 695,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2491,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1258A>G",
"hgvs_p": "p.Ile420Val",
"transcript": "XM_047430370.1",
"protein_id": "XP_047286326.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 689,
"cds_start": 1258,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1345A>G",
"hgvs_p": "p.Ile449Val",
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"transcript": "XM_047430377.1",
"protein_id": "XP_047286333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"dbsnp": "rs35719359",
"frequency_reference_population": 0.047014076,
"hom_count_reference_population": 2159,
"allele_count_reference_population": 75648,
"gnomad_exomes_af": 0.0477926,
"gnomad_genomes_af": 0.0395636,
"gnomad_exomes_ac": 69625,
"gnomad_genomes_ac": 6023,
"gnomad_exomes_homalt": 1967,
"gnomad_genomes_homalt": 192,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015204548835754395,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.399,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1911,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.093,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -18,
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 20,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000376285.6",
"gene_symbol": "PCCA",
"hgnc_id": 8653,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Ile475Val"
}
],
"clinvar_disease": "Propionic acidemia,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:6",
"phenotype_combined": "not specified|Propionic acidemia|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}