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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: 17-79940972-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=79940972&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 79940972,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_019020.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2191G>C",
"hgvs_p": "p.Gly731Arg",
"transcript": "NM_019020.4",
"protein_id": "NP_061893.2",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 767,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310924.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019020.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2191G>C",
"hgvs_p": "p.Gly731Arg",
"transcript": "ENST00000310924.7",
"protein_id": "ENSP00000309794.2",
"transcript_support_level": 1,
"aa_start": 731,
"aa_end": null,
"aa_length": 767,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019020.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310924.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1105G>C",
"hgvs_p": "p.Gly369Arg",
"transcript": "ENST00000340848.11",
"protein_id": "ENSP00000341517.7",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 405,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340848.11"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Gly356Arg",
"transcript": "ENST00000576768.5",
"protein_id": "ENSP00000461522.1",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 392,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576768.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2401G>C",
"hgvs_p": "p.Gly801Arg",
"transcript": "ENST00000926258.1",
"protein_id": "ENSP00000596317.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 837,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926258.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2398G>C",
"hgvs_p": "p.Gly800Arg",
"transcript": "ENST00000926255.1",
"protein_id": "ENSP00000596314.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 836,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926255.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2362G>C",
"hgvs_p": "p.Gly788Arg",
"transcript": "ENST00000926253.1",
"protein_id": "ENSP00000596312.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 824,
"cds_start": 2362,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926253.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2359G>C",
"hgvs_p": "p.Gly787Arg",
"transcript": "ENST00000968563.1",
"protein_id": "ENSP00000638622.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 823,
"cds_start": 2359,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968563.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2317G>C",
"hgvs_p": "p.Gly773Arg",
"transcript": "ENST00000926262.1",
"protein_id": "ENSP00000596321.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 809,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926262.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2191G>C",
"hgvs_p": "p.Gly731Arg",
"transcript": "ENST00000910406.1",
"protein_id": "ENSP00000580465.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 767,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910406.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2191G>C",
"hgvs_p": "p.Gly731Arg",
"transcript": "ENST00000926254.1",
"protein_id": "ENSP00000596313.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 767,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926254.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Gly730Arg",
"transcript": "ENST00000910405.1",
"protein_id": "ENSP00000580464.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 766,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910405.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Gly730Arg",
"transcript": "ENST00000910407.1",
"protein_id": "ENSP00000580466.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 766,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910407.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Gly730Arg",
"transcript": "ENST00000926257.1",
"protein_id": "ENSP00000596316.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 766,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926257.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2149G>C",
"hgvs_p": "p.Gly717Arg",
"transcript": "ENST00000926252.1",
"protein_id": "ENSP00000596311.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 753,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926252.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2149G>C",
"hgvs_p": "p.Gly717Arg",
"transcript": "ENST00000926260.1",
"protein_id": "ENSP00000596319.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 753,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926260.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2149G>C",
"hgvs_p": "p.Gly717Arg",
"transcript": "ENST00000926261.1",
"protein_id": "ENSP00000596320.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 753,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926261.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2146G>C",
"hgvs_p": "p.Gly716Arg",
"transcript": "ENST00000910404.1",
"protein_id": "ENSP00000580463.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 752,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910404.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2143G>C",
"hgvs_p": "p.Gly715Arg",
"transcript": "ENST00000926256.1",
"protein_id": "ENSP00000596315.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 751,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926256.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2011G>C",
"hgvs_p": "p.Gly671Arg",
"transcript": "ENST00000926259.1",
"protein_id": "ENSP00000596318.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 707,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926259.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2008G>C",
"hgvs_p": "p.Gly670Arg",
"transcript": "ENST00000926263.1",
"protein_id": "ENSP00000596322.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 706,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926263.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2008G>C",
"hgvs_p": "p.Gly670Arg",
"transcript": "ENST00000926264.1",
"protein_id": "ENSP00000596323.1",
"transcript_support_level": null,
"aa_start": 670,
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.51,
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}