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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: 6-152334217-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152334217&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 152334217,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000367255.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12584delA",
"hgvs_p": "p.Lys4195fs",
"transcript": "NM_182961.4",
"protein_id": "NP_892006.3",
"transcript_support_level": null,
"aa_start": 4195,
"aa_end": null,
"aa_length": 8797,
"cds_start": 12584,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 13149,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "ENST00000367255.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12584delA",
"hgvs_p": "p.Lys4195fs",
"transcript": "ENST00000367255.10",
"protein_id": "ENSP00000356224.5",
"transcript_support_level": 1,
"aa_start": 4195,
"aa_end": null,
"aa_length": 8797,
"cds_start": 12584,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 13149,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "NM_182961.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12371delA",
"hgvs_p": "p.Lys4124fs",
"transcript": "ENST00000423061.6",
"protein_id": "ENSP00000396024.1",
"transcript_support_level": 1,
"aa_start": 4124,
"aa_end": null,
"aa_length": 8749,
"cds_start": 12371,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 12847,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12371delA",
"hgvs_p": "p.Lys4124fs",
"transcript": "NM_033071.5",
"protein_id": "NP_149062.2",
"transcript_support_level": null,
"aa_start": 4124,
"aa_end": null,
"aa_length": 8749,
"cds_start": 12371,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 12847,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12605delA",
"hgvs_p": "p.Lys4202fs",
"transcript": "XM_006715407.2",
"protein_id": "XP_006715470.1",
"transcript_support_level": null,
"aa_start": 4202,
"aa_end": null,
"aa_length": 8846,
"cds_start": 12605,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 13081,
"cdna_end": null,
"cdna_length": 27766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 149,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12605delA",
"hgvs_p": "p.Lys4202fs",
"transcript": "XM_017010608.2",
"protein_id": "XP_016866097.1",
"transcript_support_level": null,
"aa_start": 4202,
"aa_end": null,
"aa_length": 8846,
"cds_start": 12605,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 13170,
"cdna_end": null,
"cdna_length": 27855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12605delA",
"hgvs_p": "p.Lys4202fs",
"transcript": "XM_017010609.2",
"protein_id": "XP_016866098.1",
"transcript_support_level": null,
"aa_start": 4202,
"aa_end": null,
"aa_length": 8846,
"cds_start": 12605,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 13002,
"cdna_end": null,
"cdna_length": 27687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12605delA",
"hgvs_p": "p.Lys4202fs",
"transcript": "XM_011535641.3",
"protein_id": "XP_011533943.1",
"transcript_support_level": null,
"aa_start": 4202,
"aa_end": null,
"aa_length": 8845,
"cds_start": 12605,
"cds_end": null,
"cds_length": 26538,
"cdna_start": 13081,
"cdna_end": null,
"cdna_length": 27763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12605delA",
"hgvs_p": "p.Lys4202fs",
"transcript": "XM_006715408.3",
"protein_id": "XP_006715471.1",
"transcript_support_level": null,
"aa_start": 4202,
"aa_end": null,
"aa_length": 8842,
"cds_start": 12605,
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"cds_length": 26529,
"cdna_start": 13081,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12605delA",
"hgvs_p": "p.Lys4202fs",
"transcript": "XM_011535642.3",
"protein_id": "XP_011533944.1",
"transcript_support_level": null,
"aa_start": 4202,
"aa_end": null,
"aa_length": 8841,
"cds_start": 12605,
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"cdna_start": 13081,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12584delA",
"hgvs_p": "p.Lys4195fs",
"transcript": "XM_006715409.2",
"protein_id": "XP_006715472.1",
"transcript_support_level": null,
"aa_start": 4195,
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"cds_start": 12584,
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"cdna_start": 13060,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 76,
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"intron_rank": null,
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"gene_symbol": "SYNE1",
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"transcript": "XM_017010610.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 77,
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"exon_count": 148,
"intron_rank": null,
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"gene_symbol": "SYNE1",
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},
{
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],
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"gene_symbol": "SYNE1",
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"transcript": "XM_017010611.3",
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},
{
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],
"exon_rank": 77,
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"intron_rank": null,
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"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12605delA",
"hgvs_p": "p.Lys4202fs",
"transcript": "XM_006715410.3",
"protein_id": "XP_006715473.1",
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},
{
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],
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"gene_symbol": "SYNE1",
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},
{
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],
"exon_rank": 76,
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"intron_rank": null,
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"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12554delA",
"hgvs_p": "p.Lys4185fs",
"transcript": "XM_006715411.2",
"protein_id": "XP_006715474.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "SYNE1",
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"hgvs_c": "c.12554delA",
"hgvs_p": "p.Lys4185fs",
"transcript": "XM_047418503.1",
"protein_id": "XP_047274459.1",
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},
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],
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"hgvs_p": "p.Lys4202fs",
"transcript": "XM_006715412.3",
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],
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"gene_symbol": "SYNE1",
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"transcript": "XM_006715413.3",
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},
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],
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"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 76,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.12533delA",
"hgvs_p": "p.Lys4178fs",
"transcript": "XM_047418504.1",
"protein_id": "XP_047274460.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 75,
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}
],
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"dbsnp": "rs886042380",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.455,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000367255.10",
"gene_symbol": "SYNE1",
"hgnc_id": 17089,
"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.12584delA",
"hgvs_p": "p.Lys4195fs"
}
],
"clinvar_disease": " Beauce type, autosomal dominant,Autosomal recessive ataxia,Emery-Dreifuss muscular dystrophy 4,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "not provided|Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}