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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: 6-152141288-CAC-AAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152141288&ref=CAC&alt=AAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SYNE1",
"hgnc_id": 17089,
"hgvs_c": "c.25159_25161delGTGinsCTT",
"hgvs_p": "p.Val8387Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_182961.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000300811",
"hgnc_id": null,
"hgvs_c": "n.206+11233_206+11235delCACinsAAG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000774204.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8797,
"aa_ref": "V",
"aa_start": 8387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27708,
"cdna_start": 25726,
"cds_end": null,
"cds_length": 26394,
"cds_start": 25159,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_182961.4",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.25159_25161delGTGinsCTT",
"hgvs_p": "p.Val8387Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367255.10",
"protein_coding": true,
"protein_id": "NP_892006.3",
"strand": false,
"transcript": "NM_182961.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8797,
"aa_ref": "V",
"aa_start": 8387,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 27708,
"cdna_start": 25726,
"cds_end": null,
"cds_length": 26394,
"cds_start": 25159,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367255.10",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.25159_25161delGTGinsCTT",
"hgvs_p": "p.Val8387Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182961.4",
"protein_coding": true,
"protein_id": "ENSP00000356224.5",
"strand": false,
"transcript": "ENST00000367255.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "V",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2928,
"cds_start": 1693,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347702.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.1693_1695delGTGinsCTT",
"hgvs_p": "p.Val565Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000354674.5",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334631.1",
"strand": false,
"transcript": "NM_001347702.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "V",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2928,
"cds_start": 1693,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354674.5",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.1693_1695delGTGinsCTT",
"hgvs_p": "p.Val565Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001347702.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346701.4",
"strand": false,
"transcript": "ENST00000354674.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8749,
"aa_ref": "V",
"aa_start": 8339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27475,
"cdna_start": 25493,
"cds_end": null,
"cds_length": 26250,
"cds_start": 25015,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423061.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.25015_25017delGTGinsCTT",
"hgvs_p": "p.Val8339Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396024.1",
"strand": false,
"transcript": "ENST00000423061.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1654,
"aa_ref": "V",
"aa_start": 1332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5837,
"cdna_start": 3996,
"cds_end": null,
"cds_length": 4965,
"cds_start": 3994,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367251.7",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.3994_3996delGTGinsCTT",
"hgvs_p": "p.Val1332Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356220.3",
"strand": false,
"transcript": "ENST00000367251.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3798,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000347037.9",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.1907_1909delGTGinsCTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000347037.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 10742,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 61,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "ENST00000367256.9",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.8851_8853delGTGinsCTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000367256.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 10634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 59,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "ENST00000409694.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.8743_8745delGTGinsCTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000409694.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3664,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000460912.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.1773_1775delGTGinsCTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000460912.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8749,
"aa_ref": "V",
"aa_start": 8339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27475,
"cdna_start": 25493,
"cds_end": null,
"cds_length": 26250,
"cds_start": 25015,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_033071.5",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.25015_25017delGTGinsCTT",
"hgvs_p": "p.Val8339Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_149062.2",
"strand": false,
"transcript": "NM_033071.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1355,
"aa_ref": "V",
"aa_start": 1033,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5022,
"cdna_start": 3099,
"cds_end": null,
"cds_length": 4068,
"cds_start": 3097,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367257.8",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.3097_3099delGTGinsCTT",
"hgvs_p": "p.Val1033Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356226.4",
"strand": false,
"transcript": "ENST00000367257.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
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"aa_length": 952,
"aa_ref": "V",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539504.5",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.1624_1626delGTGinsCTT",
"hgvs_p": "p.Val542Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441052.1",
"strand": false,
"transcript": "ENST00000539504.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 911,
"aa_ref": "V",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3921,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 2736,
"cds_start": 1765,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347701.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.1765_1767delGTGinsCTT",
"hgvs_p": "p.Val589Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334630.1",
"strand": false,
"transcript": "NM_001347701.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 911,
"aa_ref": "V",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 2736,
"cds_start": 1765,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000536990.5",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.1765_1767delGTGinsCTT",
"hgvs_p": "p.Val589Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516090.1",
"strand": false,
"transcript": "ENST00000536990.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1905,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000672169.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.892_894delGTGinsCTT",
"hgvs_p": "p.Val298Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500287.1",
"strand": false,
"transcript": "ENST00000672169.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 509,
"aa_ref": "V",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2350,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1530,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000672154.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.559_561delGTGinsCTT",
"hgvs_p": "p.Val187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500128.1",
"strand": false,
"transcript": "ENST00000672154.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "V",
"aa_start": 8422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27766,
"cdna_start": 25742,
"cds_end": null,
"cds_length": 26541,
"cds_start": 25264,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006715407.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.25264_25266delGTGinsCTT",
"hgvs_p": "p.Val8422Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715470.1",
"strand": false,
"transcript": "XM_006715407.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 8846,
"aa_ref": "V",
"aa_start": 8422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27855,
"cdna_start": 25831,
"cds_end": null,
"cds_length": 26541,
"cds_start": 25264,
"consequences": [
"missense_variant"
],
"exon_count": 149,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010608.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.25264_25266delGTGinsCTT",
"hgvs_p": "p.Val8422Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866097.1",
"strand": false,
"transcript": "XM_017010608.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "V",
"aa_start": 8422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27687,
"cdna_start": 25663,
"cds_end": null,
"cds_length": 26541,
"cds_start": 25264,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010609.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.25264_25266delGTGinsCTT",
"hgvs_p": "p.Val8422Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866098.1",
"strand": false,
"transcript": "XM_017010609.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8845,
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}