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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: 16-67990913-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67990913&ref=C&alt=G&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": "DPEP2",
"hgnc_id": 23028,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_022355.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DUS2",
"hgnc_id": 26014,
"hgvs_c": "c.-19+2960C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000570709.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1622,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11633148789405823,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1461,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_022355.4",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393847.6",
"protein_coding": true,
"protein_id": "NP_071750.1",
"strand": false,
"transcript": "NM_022355.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1461,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000393847.6",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022355.4",
"protein_coding": true,
"protein_id": "ENSP00000377430.1",
"strand": false,
"transcript": "ENST00000393847.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 1461,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000572888.5",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458977.1",
"strand": false,
"transcript": "ENST00000572888.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1500,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867048.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537107.1",
"strand": false,
"transcript": "ENST00000867048.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1500,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000970170.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640229.1",
"strand": false,
"transcript": "ENST00000970170.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1476,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867045.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537104.1",
"strand": false,
"transcript": "ENST00000867045.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1476,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000970168.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640227.1",
"strand": false,
"transcript": "ENST00000970168.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1754,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1476,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000970171.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640230.1",
"strand": false,
"transcript": "ENST00000970171.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1461,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001369657.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356586.1",
"strand": false,
"transcript": "NM_001369657.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1788,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1461,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867043.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537102.1",
"strand": false,
"transcript": "ENST00000867043.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 1461,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000867046.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537105.1",
"strand": false,
"transcript": "ENST00000867046.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1746,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1461,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867047.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537106.1",
"strand": false,
"transcript": "ENST00000867047.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1461,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867049.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537108.1",
"strand": false,
"transcript": "ENST00000867049.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1827,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1461,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867050.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537109.1",
"strand": false,
"transcript": "ENST00000867050.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 477,
"aa_ref": "V",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1434,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867044.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.790G>C",
"hgvs_p": "p.Val264Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537103.1",
"strand": false,
"transcript": "ENST00000867044.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 477,
"aa_ref": "V",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1434,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000970169.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.790G>C",
"hgvs_p": "p.Val264Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640228.1",
"strand": false,
"transcript": "ENST00000970169.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 328,
"aa_ref": "V",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1269,
"cdna_start": 513,
"cds_end": null,
"cds_length": 987,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324159.2",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Val115Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311088.1",
"strand": false,
"transcript": "NM_001324159.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 160,
"aa_ref": "V",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 580,
"cdna_start": 565,
"cds_end": null,
"cds_length": 484,
"cds_start": 469,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000573808.1",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.469G>C",
"hgvs_p": "p.Val157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463604.1",
"strand": false,
"transcript": "ENST00000573808.1",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 121,
"aa_ref": "V",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 447,
"cdna_start": 272,
"cds_end": null,
"cds_length": 368,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000575510.5",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.193G>C",
"hgvs_p": "p.Val65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462652.1",
"strand": false,
"transcript": "ENST00000575510.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1500,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011523266.2",
"gene_hgnc_id": 23028,
"gene_symbol": "DPEP2",
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Val273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521568.1",
"strand": false,
"transcript": "XM_011523266.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": 948,
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}