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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: 11-61533113-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61533113&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SYT7",
"hgnc_id": 11514,
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001365809.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.243,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4949248433113098,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 686,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7230,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001365809.2",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000539008.6",
"protein_coding": true,
"protein_id": "NP_001352738.1",
"strand": false,
"transcript": "NM_001365809.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 686,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7230,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000539008.6",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001365809.2",
"protein_coding": true,
"protein_id": "ENSP00000439694.1",
"strand": false,
"transcript": "ENST00000539008.6",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 478,
"aa_ref": "G",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 458,
"cds_end": null,
"cds_length": 1437,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000540677.5",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Gly151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444201.1",
"strand": false,
"transcript": "ENST00000540677.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 403,
"aa_ref": "G",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4854,
"cdna_start": 555,
"cds_end": null,
"cds_length": 1212,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000263846.8",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Gly76Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263846.4",
"strand": false,
"transcript": "ENST00000263846.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 611,
"aa_ref": "G",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1836,
"cds_start": 851,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000542670.5",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Gly284Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444019.1",
"strand": false,
"transcript": "ENST00000542670.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 522,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6738,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1569,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001411007.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Gly195Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397936.1",
"strand": false,
"transcript": "NM_001411007.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 522,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1569,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000535826.5",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Gly195Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437720.1",
"strand": false,
"transcript": "ENST00000535826.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 491,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1476,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000968863.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Gly195Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638922.1",
"strand": false,
"transcript": "ENST00000968863.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 479,
"aa_ref": "G",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2547,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1440,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001370210.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Gly172Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357139.1",
"strand": false,
"transcript": "NM_001370210.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 478,
"aa_ref": "G",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6606,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1437,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001252065.2",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Gly151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238994.1",
"strand": false,
"transcript": "NM_001252065.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 447,
"aa_ref": "G",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6513,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1344,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001300773.2",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Gly120Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287702.1",
"strand": false,
"transcript": "NM_001300773.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 447,
"aa_ref": "G",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1362,
"cdna_start": 377,
"cds_end": null,
"cds_length": 1344,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000542836.5",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Gly120Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444568.1",
"strand": false,
"transcript": "ENST00000542836.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 447,
"aa_ref": "G",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5005,
"cdna_start": 799,
"cds_end": null,
"cds_length": 1344,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000933166.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Gly151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603225.1",
"strand": false,
"transcript": "ENST00000933166.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 403,
"aa_ref": "G",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6381,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1212,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_004200.4",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Gly76Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004191.2",
"strand": false,
"transcript": "NM_004200.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 383,
"aa_ref": "G",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1152,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001370211.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Gly76Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357140.1",
"strand": false,
"transcript": "NM_001370211.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 372,
"aa_ref": "G",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1119,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933167.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Gly76Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603226.1",
"strand": false,
"transcript": "ENST00000933167.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 174,
"aa_ref": "G",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 578,
"cdna_start": 279,
"cds_end": null,
"cds_length": 526,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000545053.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Gly76Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443576.1",
"strand": false,
"transcript": "ENST00000545053.1",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 692,
"aa_ref": "G",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7051,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1094,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011545335.3",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Gly365Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543637.1",
"strand": false,
"transcript": "XM_011545335.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 651,
"aa_ref": "G",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6928,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1956,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011545336.3",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.971G>A",
"hgvs_p": "p.Gly324Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543638.1",
"strand": false,
"transcript": "XM_011545336.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 648,
"aa_ref": "G",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6919,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1947,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011545337.3",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Gly321Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543639.1",
"strand": false,
"transcript": "XM_011545337.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 642,
"aa_ref": "G",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7098,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 1929,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005274384.3",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Gly315Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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