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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: 3-17166860-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=17166860&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 17166860,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001134381.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2067G>C",
"hgvs_p": "p.Gln689His",
"transcript": "NM_001349074.2",
"protein_id": "NP_001336003.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 817,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 6500,
"mane_select": "ENST00000696125.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349074.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2067G>C",
"hgvs_p": "p.Gln689His",
"transcript": "ENST00000696125.1",
"protein_id": "ENSP00000512418.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 817,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 6500,
"mane_select": "NM_001349074.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696125.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2067G>C",
"hgvs_p": "p.Gln689His",
"transcript": "ENST00000446818.6",
"protein_id": "ENSP00000402935.2",
"transcript_support_level": 1,
"aa_start": 689,
"aa_end": null,
"aa_length": 817,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446818.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His",
"transcript": "ENST00000253692.11",
"protein_id": "ENSP00000253692.6",
"transcript_support_level": 1,
"aa_start": 667,
"aa_end": null,
"aa_length": 795,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 3666,
"cdna_end": null,
"cdna_length": 7854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253692.11"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His",
"transcript": "ENST00000429383.8",
"protein_id": "ENSP00000398127.4",
"transcript_support_level": 1,
"aa_start": 667,
"aa_end": null,
"aa_length": 795,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429383.8"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2067G>C",
"hgvs_p": "p.Gln689His",
"transcript": "NM_001134381.2",
"protein_id": "NP_001127853.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 817,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 6513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134381.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2067G>C",
"hgvs_p": "p.Gln689His",
"transcript": "NM_001349073.2",
"protein_id": "NP_001336002.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 817,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 6435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349073.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2067G>C",
"hgvs_p": "p.Gln689His",
"transcript": "NM_001349075.2",
"protein_id": "NP_001336004.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 817,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 6529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349075.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2067G>C",
"hgvs_p": "p.Gln689His",
"transcript": "ENST00000907031.1",
"protein_id": "ENSP00000577090.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 817,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2898,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907031.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2067G>C",
"hgvs_p": "p.Gln689His",
"transcript": "ENST00000907038.1",
"protein_id": "ENSP00000577097.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 817,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2374,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907038.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2067G>C",
"hgvs_p": "p.Gln689His",
"transcript": "ENST00000907046.1",
"protein_id": "ENSP00000577105.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 817,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907046.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2067G>C",
"hgvs_p": "p.Gln689His",
"transcript": "ENST00000907048.1",
"protein_id": "ENSP00000577107.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 817,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2584,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907048.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2067G>C",
"hgvs_p": "p.Gln689His",
"transcript": "ENST00000965798.1",
"protein_id": "ENSP00000635857.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 817,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2522,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965798.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2067G>C",
"hgvs_p": "p.Gln689His",
"transcript": "ENST00000965814.1",
"protein_id": "ENSP00000635873.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 817,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2172,
"cdna_end": null,
"cdna_length": 6349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965814.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2064G>C",
"hgvs_p": "p.Gln688His",
"transcript": "ENST00000907047.1",
"protein_id": "ENSP00000577106.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 816,
"cds_start": 2064,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2267,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907047.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2022G>C",
"hgvs_p": "p.Gln674His",
"transcript": "NM_001349081.2",
"protein_id": "NP_001336010.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 802,
"cds_start": 2022,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 6487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349081.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His",
"transcript": "NM_001349076.2",
"protein_id": "NP_001336005.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 795,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 6530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349076.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His",
"transcript": "NM_001349077.2",
"protein_id": "NP_001336006.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 795,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 6493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349077.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His",
"transcript": "NM_001349078.2",
"protein_id": "NP_001336007.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 795,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 6434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349078.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His",
"transcript": "NM_001349079.2",
"protein_id": "NP_001336008.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 795,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2457,
"cdna_end": null,
"cdna_length": 6639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349079.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His",
"transcript": "NM_001349080.2",
"protein_id": "NP_001336009.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 795,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 6369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349080.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His",
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285731",
"gene_hgnc_id": null,
"hgvs_c": "n.697+11368C>G",
"hgvs_p": null,
"transcript": "ENST00000762764.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000762764.1"
}
],
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"dbsnp": "rs146791549",
"frequency_reference_population": 0.00019515809,
"hom_count_reference_population": 0,
"allele_count_reference_population": 315,
"gnomad_exomes_af": 0.000202486,
"gnomad_genomes_af": 0.000124798,
"gnomad_exomes_ac": 296,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15791290998458862,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.2182,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.251,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001134381.2",
"gene_symbol": "TBC1D5",
"hgnc_id": 19166,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2067G>C",
"hgvs_p": "p.Gln689His"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000649558.2",
"gene_symbol": "ENSG00000285731",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.863+11368C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}