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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: 6-152213614-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152213614&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SYNE1",
"hgnc_id": 17089,
"hgvs_c": "c.22492G>A",
"hgvs_p": "p.Glu7498Lys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_182961.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 47,
"alphamissense_prediction": null,
"alphamissense_score": 0.4066,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " Beauce type, autosomal dominant,Autosomal recessive ataxia,Emery-Dreifuss muscular dystrophy 4,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6927195191383362,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 8797,
"aa_ref": "E",
"aa_start": 7498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27708,
"cdna_start": 23057,
"cds_end": null,
"cds_length": 26394,
"cds_start": 22492,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 146,
"exon_rank": 123,
"exon_rank_end": null,
"feature": "NM_182961.4",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22492G>A",
"hgvs_p": "p.Glu7498Lys",
"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": "K",
"aa_end": null,
"aa_length": 8797,
"aa_ref": "E",
"aa_start": 7498,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 27708,
"cdna_start": 23057,
"cds_end": null,
"cds_length": 26394,
"cds_start": 22492,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 146,
"exon_rank": 123,
"exon_rank_end": null,
"feature": "ENST00000367255.10",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22492G>A",
"hgvs_p": "p.Glu7498Lys",
"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": "K",
"aa_end": null,
"aa_length": 8749,
"aa_ref": "E",
"aa_start": 7427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27475,
"cdna_start": 22755,
"cds_end": null,
"cds_length": 26250,
"cds_start": 22279,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 146,
"exon_rank": 122,
"exon_rank_end": null,
"feature": "ENST00000423061.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22279G>A",
"hgvs_p": "p.Glu7427Lys",
"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": "K",
"aa_end": null,
"aa_length": 1654,
"aa_ref": "E",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5837,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 4965,
"cds_start": 1258,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000367251.7",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Glu420Lys",
"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": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 10742,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 61,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000367256.9",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.6184G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 59,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000409694.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.6076G>A",
"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": "K",
"aa_end": null,
"aa_length": 8749,
"aa_ref": "E",
"aa_start": 7427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27475,
"cdna_start": 22755,
"cds_end": null,
"cds_length": 26250,
"cds_start": 22279,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 146,
"exon_rank": 122,
"exon_rank_end": null,
"feature": "NM_033071.5",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22279G>A",
"hgvs_p": "p.Glu7427Lys",
"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": "K",
"aa_end": null,
"aa_length": 1355,
"aa_ref": "E",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5022,
"cdna_start": 430,
"cds_end": null,
"cds_length": 4068,
"cds_start": 430,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000367257.8",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Glu144Lys",
"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": "K",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "E",
"aa_start": 7510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27766,
"cdna_start": 23004,
"cds_end": null,
"cds_length": 26541,
"cds_start": 22528,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 148,
"exon_rank": 123,
"exon_rank_end": null,
"feature": "XM_006715407.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22528G>A",
"hgvs_p": "p.Glu7510Lys",
"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": "K",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "E",
"aa_start": 7510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27855,
"cdna_start": 23093,
"cds_end": null,
"cds_length": 26541,
"cds_start": 22528,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 149,
"exon_rank": 124,
"exon_rank_end": null,
"feature": "XM_017010608.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22528G>A",
"hgvs_p": "p.Glu7510Lys",
"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": "K",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "E",
"aa_start": 7510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27687,
"cdna_start": 22925,
"cds_end": null,
"cds_length": 26541,
"cds_start": 22528,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 148,
"exon_rank": 123,
"exon_rank_end": null,
"feature": "XM_017010609.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22528G>A",
"hgvs_p": "p.Glu7510Lys",
"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": "K",
"aa_end": null,
"aa_length": 8845,
"aa_ref": "E",
"aa_start": 7509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27763,
"cdna_start": 23001,
"cds_end": null,
"cds_length": 26538,
"cds_start": 22525,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 148,
"exon_rank": 123,
"exon_rank_end": null,
"feature": "XM_011535641.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22525G>A",
"hgvs_p": "p.Glu7509Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533943.1",
"strand": false,
"transcript": "XM_011535641.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 8842,
"aa_ref": "E",
"aa_start": 7506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27754,
"cdna_start": 22992,
"cds_end": null,
"cds_length": 26529,
"cds_start": 22516,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 148,
"exon_rank": 123,
"exon_rank_end": null,
"feature": "XM_006715408.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22516G>A",
"hgvs_p": "p.Glu7506Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715471.1",
"strand": false,
"transcript": "XM_006715408.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 8841,
"aa_ref": "E",
"aa_start": 7505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27751,
"cdna_start": 22989,
"cds_end": null,
"cds_length": 26526,
"cds_start": 22513,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 148,
"exon_rank": 123,
"exon_rank_end": null,
"feature": "XM_011535642.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22513G>A",
"hgvs_p": "p.Glu7505Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533944.1",
"strand": false,
"transcript": "XM_011535642.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 8839,
"aa_ref": "E",
"aa_start": 7503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27745,
"cdna_start": 22983,
"cds_end": null,
"cds_length": 26520,
"cds_start": 22507,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 147,
"exon_rank": 122,
"exon_rank_end": null,
"feature": "XM_006715409.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22507G>A",
"hgvs_p": "p.Glu7503Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715472.1",
"strand": false,
"transcript": "XM_006715409.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 8839,
"aa_ref": "E",
"aa_start": 7503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27666,
"cdna_start": 22904,
"cds_end": null,
"cds_length": 26520,
"cds_start": 22507,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 147,
"exon_rank": 122,
"exon_rank_end": null,
"feature": "XM_017010610.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22507G>A",
"hgvs_p": "p.Glu7503Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866099.1",
"strand": false,
"transcript": "XM_017010610.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 8839,
"aa_ref": "E",
"aa_start": 7503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27834,
"cdna_start": 23072,
"cds_end": null,
"cds_length": 26520,
"cds_start": 22507,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 148,
"exon_rank": 123,
"exon_rank_end": null,
"feature": "XM_047418501.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22507G>A",
"hgvs_p": "p.Glu7503Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274457.1",
"strand": false,
"transcript": "XM_047418501.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 8837,
"aa_ref": "E",
"aa_start": 7501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27387,
"cdna_start": 22625,
"cds_end": null,
"cds_length": 26514,
"cds_start": 22501,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 147,
"exon_rank": 122,
"exon_rank_end": null,
"feature": "XM_017010611.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22501G>A",
"hgvs_p": "p.Glu7501Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866100.1",
"strand": false,
"transcript": "XM_017010611.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 8832,
"aa_ref": "E",
"aa_start": 7510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27724,
"cdna_start": 23004,
"cds_end": null,
"cds_length": 26499,
"cds_start": 22528,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 147,
"exon_rank": 123,
"exon_rank_end": null,
"feature": "XM_006715410.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22528G>A",
"hgvs_p": "p.Glu7510Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715473.1",
"strand": false,
"transcript": "XM_006715410.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 8831,
"aa_ref": "E",
"aa_start": 7509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27721,
"cdna_start": 23001,
"cds_end": null,
"cds_length": 26496,
"cds_start": 22525,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 147,
"exon_rank": 123,
"exon_rank_end": null,
"feature": "XM_047418502.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.22525G>A",
"hgvs_p": "p.Glu7509Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274458.1",
"strand": false,
"transcript": "XM_047418502.1",
"transcript_support_level": null
},
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