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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: 11-61533045-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61533045&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SYT7",
"hgnc_id": 11514,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001365809.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.293,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"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": "Benign",
"computational_score_selected": 0.28992176055908203,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 686,
"aa_ref": "E",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7230,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1144,
"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.1144G>A",
"hgvs_p": "p.Glu382Lys",
"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": "K",
"aa_end": null,
"aa_length": 686,
"aa_ref": "E",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7230,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1144,
"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.1144G>A",
"hgvs_p": "p.Glu382Lys",
"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": "K",
"aa_end": null,
"aa_length": 478,
"aa_ref": "E",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 526,
"cds_end": null,
"cds_length": 1437,
"cds_start": 520,
"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.520G>A",
"hgvs_p": "p.Glu174Lys",
"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": "K",
"aa_end": null,
"aa_length": 403,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4854,
"cdna_start": 623,
"cds_end": null,
"cds_length": 1212,
"cds_start": 295,
"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.295G>A",
"hgvs_p": "p.Glu99Lys",
"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": "K",
"aa_end": null,
"aa_length": 611,
"aa_ref": "E",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1836,
"cds_start": 919,
"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.919G>A",
"hgvs_p": "p.Glu307Lys",
"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": "K",
"aa_end": null,
"aa_length": 522,
"aa_ref": "E",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6738,
"cdna_start": 908,
"cds_end": null,
"cds_length": 1569,
"cds_start": 652,
"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.652G>A",
"hgvs_p": "p.Glu218Lys",
"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": "K",
"aa_end": null,
"aa_length": 522,
"aa_ref": "E",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1569,
"cds_start": 652,
"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.652G>A",
"hgvs_p": "p.Glu218Lys",
"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": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "E",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 929,
"cds_end": null,
"cds_length": 1476,
"cds_start": 652,
"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.652G>A",
"hgvs_p": "p.Glu218Lys",
"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": "K",
"aa_end": null,
"aa_length": 479,
"aa_ref": "E",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2547,
"cdna_start": 746,
"cds_end": null,
"cds_length": 1440,
"cds_start": 583,
"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.583G>A",
"hgvs_p": "p.Glu195Lys",
"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": "K",
"aa_end": null,
"aa_length": 478,
"aa_ref": "E",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6606,
"cdna_start": 776,
"cds_end": null,
"cds_length": 1437,
"cds_start": 520,
"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.520G>A",
"hgvs_p": "p.Glu174Lys",
"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": "K",
"aa_end": null,
"aa_length": 447,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6513,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1344,
"cds_start": 427,
"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.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 447,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1362,
"cdna_start": 445,
"cds_end": null,
"cds_length": 1344,
"cds_start": 427,
"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.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 447,
"aa_ref": "E",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5005,
"cdna_start": 867,
"cds_end": null,
"cds_length": 1344,
"cds_start": 520,
"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.520G>A",
"hgvs_p": "p.Glu174Lys",
"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": "K",
"aa_end": null,
"aa_length": 403,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6381,
"cdna_start": 551,
"cds_end": null,
"cds_length": 1212,
"cds_start": 295,
"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.295G>A",
"hgvs_p": "p.Glu99Lys",
"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": "K",
"aa_end": null,
"aa_length": 383,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 551,
"cds_end": null,
"cds_length": 1152,
"cds_start": 295,
"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.295G>A",
"hgvs_p": "p.Glu99Lys",
"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": "K",
"aa_end": null,
"aa_length": 372,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 384,
"cds_end": null,
"cds_length": 1119,
"cds_start": 295,
"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.295G>A",
"hgvs_p": "p.Glu99Lys",
"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": "K",
"aa_end": null,
"aa_length": 174,
"aa_ref": "E",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 578,
"cdna_start": 347,
"cds_end": null,
"cds_length": 526,
"cds_start": 295,
"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.295G>A",
"hgvs_p": "p.Glu99Lys",
"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": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7051,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1162,
"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.1162G>A",
"hgvs_p": "p.Glu388Lys",
"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": "K",
"aa_end": null,
"aa_length": 651,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6928,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1039,
"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.1039G>A",
"hgvs_p": "p.Glu347Lys",
"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": "K",
"aa_end": null,
"aa_length": 648,
"aa_ref": "E",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6919,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1030,
"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.1030G>A",
"hgvs_p": "p.Glu344Lys",
"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": "K",
"aa_end": null,
"aa_length": 642,
"aa_ref": "E",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7098,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1012,
"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.1012G>A",
"hgvs_p": "p.Glu338Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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