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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: 1-178851298-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=178851298&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANGPTL1",
"hgnc_id": 489,
"hgvs_c": "c.1307A>C",
"hgvs_p": "p.His436Pro",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_004673.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RALGPS2",
"hgnc_id": 30279,
"hgvs_c": "c.607+17748T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_152663.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9767,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.3,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8304386734962463,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 491,
"aa_ref": "H",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3543,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_004673.4",
"gene_hgnc_id": 489,
"gene_symbol": "ANGPTL1",
"hgvs_c": "c.1307A>C",
"hgvs_p": "p.His436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000234816.7",
"protein_coding": true,
"protein_id": "NP_004664.1",
"strand": false,
"transcript": "NM_004673.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 491,
"aa_ref": "H",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3543,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000234816.7",
"gene_hgnc_id": 489,
"gene_symbol": "ANGPTL1",
"hgvs_c": "c.1307A>C",
"hgvs_p": "p.His436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004673.4",
"protein_coding": true,
"protein_id": "ENSP00000234816.2",
"strand": false,
"transcript": "ENST00000234816.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 491,
"aa_ref": "H",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000367629.1",
"gene_hgnc_id": 489,
"gene_symbol": "ANGPTL1",
"hgvs_c": "c.1307A>C",
"hgvs_p": "p.His436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356601.1",
"strand": false,
"transcript": "ENST00000367629.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 583,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7492,
"cdna_start": null,
"cds_end": null,
"cds_length": 1752,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152663.5",
"gene_hgnc_id": 30279,
"gene_symbol": "RALGPS2",
"hgvs_c": "c.607+17748T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367635.8",
"protein_coding": true,
"protein_id": "NP_689876.2",
"strand": true,
"transcript": "NM_152663.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 583,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7492,
"cdna_start": null,
"cds_end": null,
"cds_length": 1752,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367635.8",
"gene_hgnc_id": 30279,
"gene_symbol": "RALGPS2",
"hgvs_c": "c.607+17748T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152663.5",
"protein_coding": true,
"protein_id": "ENSP00000356607.3",
"strand": true,
"transcript": "ENST00000367635.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 491,
"aa_ref": "H",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3433,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001376763.1",
"gene_hgnc_id": 489,
"gene_symbol": "ANGPTL1",
"hgvs_c": "c.1307A>C",
"hgvs_p": "p.His436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363692.1",
"strand": false,
"transcript": "NM_001376763.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 491,
"aa_ref": "H",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3684,
"cdna_start": 2092,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000853919.1",
"gene_hgnc_id": 489,
"gene_symbol": "ANGPTL1",
"hgvs_c": "c.1307A>C",
"hgvs_p": "p.His436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523978.1",
"strand": false,
"transcript": "ENST00000853919.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 491,
"aa_ref": "H",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000853920.1",
"gene_hgnc_id": 489,
"gene_symbol": "ANGPTL1",
"hgvs_c": "c.1307A>C",
"hgvs_p": "p.His436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523979.1",
"strand": false,
"transcript": "ENST00000853920.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 491,
"aa_ref": "H",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": 1570,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000853921.1",
"gene_hgnc_id": 489,
"gene_symbol": "ANGPTL1",
"hgvs_c": "c.1307A>C",
"hgvs_p": "p.His436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523980.1",
"strand": false,
"transcript": "ENST00000853921.1",
"transcript_support_level": null
},
{
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"aa_length": 491,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": 2628,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853922.1",
"gene_hgnc_id": 489,
"gene_symbol": "ANGPTL1",
"hgvs_c": "c.1307A>C",
"hgvs_p": "p.His436Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523981.1",
"strand": false,
"transcript": "ENST00000853922.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000963348.1",
"gene_hgnc_id": 489,
"gene_symbol": "ANGPTL1",
"hgvs_c": "c.1307A>C",
"hgvs_p": "p.His436Pro",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000633407.1",
"strand": false,
"transcript": "ENST00000963348.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000963349.1",
"gene_hgnc_id": 489,
"gene_symbol": "ANGPTL1",
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},
{
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"consequences": [
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],
"exon_count": 5,
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"feature": "XM_047433711.1",
"gene_hgnc_id": 489,
"gene_symbol": "ANGPTL1",
"hgvs_c": "c.1307A>C",
"hgvs_p": "p.His436Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047289667.1",
"strand": false,
"transcript": "XM_047433711.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 20,
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"feature": "ENST00000853433.1",
"gene_hgnc_id": 30279,
"gene_symbol": "RALGPS2",
"hgvs_c": "c.607+17748T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000523492.1",
"strand": true,
"transcript": "ENST00000853433.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000853430.1",
"gene_hgnc_id": 30279,
"gene_symbol": "RALGPS2",
"hgvs_c": "c.601+17748T>G",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000523489.1",
"strand": true,
"transcript": "ENST00000853430.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000853431.1",
"gene_hgnc_id": 30279,
"gene_symbol": "RALGPS2",
"hgvs_c": "c.607+17748T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000523490.1",
"strand": true,
"transcript": "ENST00000853431.1",
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},
{
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],
"exon_count": 19,
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"feature": "NM_001286247.2",
"gene_hgnc_id": 30279,
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"hgvs_c": "c.607+17748T>G",
"hgvs_p": null,
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"protein_coding": true,
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"strand": true,
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},
{
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000367634.7",
"gene_hgnc_id": 30279,
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"hgvs_c": "c.607+17748T>G",
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"protein_coding": true,
"protein_id": "ENSP00000356606.2",
"strand": true,
"transcript": "ENST00000367634.7",
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},
{
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000853429.1",
"gene_hgnc_id": 30279,
"gene_symbol": "RALGPS2",
"hgvs_c": "c.517+17748T>G",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000523488.1",
"strand": true,
"transcript": "ENST00000853429.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": null,
"cds_end": null,
"cds_length": 1659,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853432.1",
"gene_hgnc_id": 30279,
"gene_symbol": "RALGPS2",
"hgvs_c": "c.514+17748T>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523491.1",
"strand": true,
"transcript": "ENST00000853432.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7400,
"cdna_start": null,
"cds_end": null,
"cds_length": 1656,
"cds_start": null,
"consequences": [
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