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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: 13-21381545-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=21381545&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": "ZDHHC20",
"hgnc_id": 20749,
"hgvs_c": "c.949G>C",
"hgvs_p": "p.Gly317Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001330059.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MIPEPP3",
"hgnc_id": 39458,
"hgvs_c": "n.571-10205C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NR_046461.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000291046",
"hgnc_id": null,
"hgvs_c": "n.409-10205C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000753164.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.1518,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "13",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.22560405731201172,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 365,
"aa_ref": "G",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5355,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1098,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001330059.2",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.949G>C",
"hgvs_p": "p.Gly317Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000400590.8",
"protein_coding": true,
"protein_id": "NP_001316988.1",
"strand": false,
"transcript": "NM_001330059.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 365,
"aa_ref": "G",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5355,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1098,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000400590.8",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.949G>C",
"hgvs_p": "p.Gly317Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330059.2",
"protein_coding": true,
"protein_id": "ENSP00000383433.3",
"strand": false,
"transcript": "ENST00000400590.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 354,
"aa_ref": "G",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5338,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 1065,
"cds_start": 946,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000382466.7",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Gly316Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371905.3",
"strand": false,
"transcript": "ENST00000382466.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 320,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1351,
"cdna_start": null,
"cds_end": null,
"cds_length": 963,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000320220.13",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.*31G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313583.9",
"strand": false,
"transcript": "ENST00000320220.13",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 365,
"aa_ref": "G",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1296,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1098,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000415724.2",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.949G>C",
"hgvs_p": "p.Gly317Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401232.1",
"strand": false,
"transcript": "ENST00000415724.2",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 292,
"aa_ref": "G",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5250,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 879,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001286638.2",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273567.1",
"strand": false,
"transcript": "NM_001286638.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 292,
"aa_ref": "G",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5315,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 879,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000542645.5",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443236.1",
"strand": false,
"transcript": "ENST00000542645.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 355,
"aa_ref": "G",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5277,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1068,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_006719797.2",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.949G>C",
"hgvs_p": "p.Gly317Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719860.1",
"strand": false,
"transcript": "XM_006719797.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 302,
"aa_ref": "G",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5398,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 909,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047430243.1",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286199.1",
"strand": false,
"transcript": "XM_047430243.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 294,
"aa_ref": "G",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5158,
"cdna_start": 884,
"cds_end": null,
"cds_length": 885,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017020525.2",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.736G>C",
"hgvs_p": "p.Gly246Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876014.1",
"strand": false,
"transcript": "XM_017020525.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 292,
"aa_ref": "G",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5320,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 879,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047430244.1",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286200.1",
"strand": false,
"transcript": "XM_047430244.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 286,
"aa_ref": "G",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5294,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 861,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047430246.1",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Gly238Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286202.1",
"strand": false,
"transcript": "XM_047430246.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 217,
"aa_ref": "G",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4845,
"cdna_start": 571,
"cds_end": null,
"cds_length": 654,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011535030.4",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Gly169Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533332.1",
"strand": false,
"transcript": "XM_011535030.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 214,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5384,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 645,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047430247.1",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Gly166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286203.1",
"strand": false,
"transcript": "XM_047430247.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 214,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4943,
"cdna_start": 669,
"cds_end": null,
"cds_length": 645,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047430248.1",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Gly166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286204.1",
"strand": false,
"transcript": "XM_047430248.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 364,
"aa_ref": "G",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5516,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 1095,
"cds_start": 946,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000926899.1",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Gly316Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596958.1",
"strand": false,
"transcript": "ENST00000926899.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 354,
"aa_ref": "G",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5274,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1065,
"cds_start": 946,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_153251.4",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Gly316Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_694983.2",
"strand": false,
"transcript": "NM_153251.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 289,
"aa_ref": "G",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5160,
"cdna_start": 887,
"cds_end": null,
"cds_length": 870,
"cds_start": 721,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000942990.1",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.721G>C",
"hgvs_p": "p.Gly241Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613049.1",
"strand": false,
"transcript": "ENST00000942990.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 364,
"aa_ref": "G",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5352,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1095,
"cds_start": 946,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_006719796.2",
"gene_hgnc_id": 20749,
"gene_symbol": "ZDHHC20",
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Gly316Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719859.1",
"strand": false,
"transcript": "XM_006719796.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 320,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1216,
"cdna_start": null,
"cds_end": null,
"cds_length": 963,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047430242.1",
"gene_hgnc_id": 20749,
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]
}