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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: 6-152233944-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152233944&ref=T&alt=A&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.20549A>T",
"hgvs_p": "p.Asp6850Val",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_182961.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.2924,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " Beauce type, autosomal dominant,Autosomal recessive ataxia,Emery-Dreifuss muscular dystrophy 4,Inborn genetic diseases,SYNE1-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.835685133934021,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 8797,
"aa_ref": "D",
"aa_start": 6850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27708,
"cdna_start": 21114,
"cds_end": null,
"cds_length": 26394,
"cds_start": 20549,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 112,
"exon_rank_end": null,
"feature": "NM_182961.4",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20549A>T",
"hgvs_p": "p.Asp6850Val",
"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": "V",
"aa_end": null,
"aa_length": 8797,
"aa_ref": "D",
"aa_start": 6850,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 27708,
"cdna_start": 21114,
"cds_end": null,
"cds_length": 26394,
"cds_start": 20549,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 112,
"exon_rank_end": null,
"feature": "ENST00000367255.10",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20549A>T",
"hgvs_p": "p.Asp6850Val",
"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": "V",
"aa_end": null,
"aa_length": 8749,
"aa_ref": "D",
"aa_start": 6779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27475,
"cdna_start": 20812,
"cds_end": null,
"cds_length": 26250,
"cds_start": 20336,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 111,
"exon_rank_end": null,
"feature": "ENST00000423061.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20336A>T",
"hgvs_p": "p.Asp6779Val",
"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": 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": 27,
"exon_rank_end": null,
"feature": "ENST00000367256.9",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.4241A>T",
"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": 25,
"exon_rank_end": null,
"feature": "ENST00000409694.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.4133A>T",
"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": "V",
"aa_end": null,
"aa_length": 8749,
"aa_ref": "D",
"aa_start": 6779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27475,
"cdna_start": 20812,
"cds_end": null,
"cds_length": 26250,
"cds_start": 20336,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 111,
"exon_rank_end": null,
"feature": "NM_033071.5",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20336A>T",
"hgvs_p": "p.Asp6779Val",
"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": "V",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "D",
"aa_start": 6862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27766,
"cdna_start": 21061,
"cds_end": null,
"cds_length": 26541,
"cds_start": 20585,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 112,
"exon_rank_end": null,
"feature": "XM_006715407.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20585A>T",
"hgvs_p": "p.Asp6862Val",
"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": "V",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "D",
"aa_start": 6862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27855,
"cdna_start": 21150,
"cds_end": null,
"cds_length": 26541,
"cds_start": 20585,
"consequences": [
"missense_variant"
],
"exon_count": 149,
"exon_rank": 113,
"exon_rank_end": null,
"feature": "XM_017010608.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20585A>T",
"hgvs_p": "p.Asp6862Val",
"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": "V",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "D",
"aa_start": 6862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27687,
"cdna_start": 20982,
"cds_end": null,
"cds_length": 26541,
"cds_start": 20585,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 112,
"exon_rank_end": null,
"feature": "XM_017010609.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20585A>T",
"hgvs_p": "p.Asp6862Val",
"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": "V",
"aa_end": null,
"aa_length": 8845,
"aa_ref": "D",
"aa_start": 6861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27763,
"cdna_start": 21058,
"cds_end": null,
"cds_length": 26538,
"cds_start": 20582,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 112,
"exon_rank_end": null,
"feature": "XM_011535641.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20582A>T",
"hgvs_p": "p.Asp6861Val",
"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": "V",
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"aa_length": 8842,
"aa_ref": "D",
"aa_start": 6858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27754,
"cdna_start": 21049,
"cds_end": null,
"cds_length": 26529,
"cds_start": 20573,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 112,
"exon_rank_end": null,
"feature": "XM_006715408.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20573A>T",
"hgvs_p": "p.Asp6858Val",
"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": "V",
"aa_end": null,
"aa_length": 8841,
"aa_ref": "D",
"aa_start": 6857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27751,
"cdna_start": 21046,
"cds_end": null,
"cds_length": 26526,
"cds_start": 20570,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 112,
"exon_rank_end": null,
"feature": "XM_011535642.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20570A>T",
"hgvs_p": "p.Asp6857Val",
"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
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 147,
"exon_rank": 111,
"exon_rank_end": null,
"feature": "XM_006715409.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20564A>T",
"hgvs_p": "p.Asp6855Val",
"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": "V",
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"aa_length": 8839,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27666,
"cdna_start": 20961,
"cds_end": null,
"cds_length": 26520,
"cds_start": 20564,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 111,
"exon_rank_end": null,
"feature": "XM_017010610.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20564A>T",
"hgvs_p": "p.Asp6855Val",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016866099.1",
"strand": false,
"transcript": "XM_017010610.2",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 21129,
"cds_end": null,
"cds_length": 26520,
"cds_start": 20564,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 112,
"exon_rank_end": null,
"feature": "XM_047418501.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20564A>T",
"hgvs_p": "p.Asp6855Val",
"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": "V",
"aa_end": null,
"aa_length": 8837,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27387,
"cdna_start": 20682,
"cds_end": null,
"cds_length": 26514,
"cds_start": 20558,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 111,
"exon_rank_end": null,
"feature": "XM_017010611.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20558A>T",
"hgvs_p": "p.Asp6853Val",
"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": "V",
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"aa_length": 8832,
"aa_ref": "D",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 21061,
"cds_end": null,
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"cds_start": 20585,
"consequences": [
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],
"exon_count": 147,
"exon_rank": 112,
"exon_rank_end": null,
"feature": "XM_006715410.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20585A>T",
"hgvs_p": "p.Asp6862Val",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006715473.1",
"strand": false,
"transcript": "XM_006715410.3",
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},
{
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"aa_ref": "D",
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"cdna_start": 21058,
"cds_end": null,
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"cds_start": 20582,
"consequences": [
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],
"exon_count": 147,
"exon_rank": 112,
"exon_rank_end": null,
"feature": "XM_047418502.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20582A>T",
"hgvs_p": "p.Asp6861Val",
"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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"aa_ref": "D",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 27715,
"cdna_start": 21010,
"cds_end": null,
"cds_length": 26490,
"cds_start": 20534,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 111,
"exon_rank_end": null,
"feature": "XM_006715411.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20534A>T",
"hgvs_p": "p.Asp6845Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715474.1",
"strand": false,
"transcript": "XM_006715411.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 8829,
"aa_ref": "D",
"aa_start": 6845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27804,
"cdna_start": 21099,
"cds_end": null,
"cds_length": 26490,
"cds_start": 20534,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 112,
"exon_rank_end": null,
"feature": "XM_047418503.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.20534A>T",
"hgvs_p": "p.Asp6845Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274459.1",
"strand": false,
"transcript": "XM_047418503.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 8827,
"aa_ref": "D",
"aa_start": 6857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27709,
"cdna_start": 21046,
"cds_end": null,
"cds_length": 26484,
"cds_start": 20570,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 112,
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