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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: 11-61528078-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61528078&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SYT7",
"hgnc_id": 11514,
"hgvs_c": "c.1308C>T",
"hgvs_p": "p.Thr436Thr",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001365809.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.28999999165534973,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 686,
"aa_ref": "T",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7230,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1308,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001365809.2",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.1308C>T",
"hgvs_p": "p.Thr436Thr",
"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": "T",
"aa_end": null,
"aa_length": 686,
"aa_ref": "T",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7230,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1308,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000539008.6",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.1308C>T",
"hgvs_p": "p.Thr436Thr",
"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": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "T",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 690,
"cds_end": null,
"cds_length": 1437,
"cds_start": 684,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000540677.5",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.684C>T",
"hgvs_p": "p.Thr228Thr",
"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": "T",
"aa_end": null,
"aa_length": 403,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4854,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1212,
"cds_start": 459,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000263846.8",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.459C>T",
"hgvs_p": "p.Thr153Thr",
"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": "T",
"aa_end": null,
"aa_length": 611,
"aa_ref": "T",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000542670.5",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.1083C>T",
"hgvs_p": "p.Thr361Thr",
"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": "T",
"aa_end": null,
"aa_length": 522,
"aa_ref": "T",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6738,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 1569,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001411007.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.816C>T",
"hgvs_p": "p.Thr272Thr",
"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": "T",
"aa_end": null,
"aa_length": 522,
"aa_ref": "T",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1569,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000535826.5",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.816C>T",
"hgvs_p": "p.Thr272Thr",
"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": "T",
"aa_end": null,
"aa_length": 491,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 1476,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000968863.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Thr241Thr",
"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": "T",
"aa_end": null,
"aa_length": 479,
"aa_ref": "T",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2547,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1440,
"cds_start": 747,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370210.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.747C>T",
"hgvs_p": "p.Thr249Thr",
"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": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "T",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6606,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1437,
"cds_start": 684,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001252065.2",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.684C>T",
"hgvs_p": "p.Thr228Thr",
"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": "T",
"aa_end": null,
"aa_length": 447,
"aa_ref": "T",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6513,
"cdna_start": 847,
"cds_end": null,
"cds_length": 1344,
"cds_start": 591,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001300773.2",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Thr197Thr",
"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": "T",
"aa_end": null,
"aa_length": 447,
"aa_ref": "T",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1362,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1344,
"cds_start": 591,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000542836.5",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Thr197Thr",
"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": "T",
"aa_end": null,
"aa_length": 447,
"aa_ref": "T",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5005,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1344,
"cds_start": 591,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000933166.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Thr197Thr",
"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": "T",
"aa_end": null,
"aa_length": 403,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6381,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1212,
"cds_start": 459,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004200.4",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.459C>T",
"hgvs_p": "p.Thr153Thr",
"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": "T",
"aa_end": null,
"aa_length": 383,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1152,
"cds_start": 459,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001370211.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.459C>T",
"hgvs_p": "p.Thr153Thr",
"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": "T",
"aa_end": null,
"aa_length": 372,
"aa_ref": "T",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 455,
"cds_end": null,
"cds_length": 1119,
"cds_start": 366,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000933167.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.366C>T",
"hgvs_p": "p.Thr122Thr",
"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": "T",
"aa_end": null,
"aa_length": 174,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 578,
"cdna_start": 511,
"cds_end": null,
"cds_length": 526,
"cds_start": 459,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000545053.1",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.459C>T",
"hgvs_p": "p.Thr153Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443576.1",
"strand": false,
"transcript": "ENST00000545053.1",
"transcript_support_level": 2
},
{
"aa_alt": "T",
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"aa_length": 692,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7051,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1326,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011545335.3",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.1326C>T",
"hgvs_p": "p.Thr442Thr",
"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": "T",
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"aa_length": 651,
"aa_ref": "T",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6928,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1203,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011545336.3",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.1203C>T",
"hgvs_p": "p.Thr401Thr",
"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": "T",
"aa_end": null,
"aa_length": 648,
"aa_ref": "T",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6919,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1194,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011545337.3",
"gene_hgnc_id": 11514,
"gene_symbol": "SYT7",
"hgvs_c": "c.1194C>T",
"hgvs_p": "p.Thr398Thr",
"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": "T",
"aa_end": null,
"aa_length": 642,
"aa_ref": "T",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7098,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1176,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005274384.3",
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