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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: 2-165992387-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=165992387&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCN1A",
"hgnc_id": 10585,
"hgvs_c": "c.4888G>A",
"hgvs_p": "p.Val1630Met",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001165963.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SCN1A-AS1",
"hgnc_id": 54069,
"hgvs_c": "n.202-23226C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 5,
"score": 5,
"transcript": "ENST00000597623.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC102724058",
"hgnc_id": null,
"hgvs_c": "n.176-23226C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 5,
"score": 5,
"transcript": "NR_110598.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Moderate,PP5",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9268,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " type 2,Developmental and epileptic encephalopathy,Generalized epilepsy with febrile seizures plus,Severe myoclonic epilepsy in infancy",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8435993194580078,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "V",
"aa_start": 1630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11940,
"cdna_start": 5366,
"cds_end": null,
"cds_length": 6030,
"cds_start": 4888,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001165963.4",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4888G>A",
"hgvs_p": "p.Val1630Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000674923.1",
"protein_coding": true,
"protein_id": "NP_001159435.1",
"strand": false,
"transcript": "NM_001165963.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "V",
"aa_start": 1630,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11940,
"cdna_start": 5366,
"cds_end": null,
"cds_length": 6030,
"cds_start": 4888,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000674923.1",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4888G>A",
"hgvs_p": "p.Val1630Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001165963.4",
"protein_coding": true,
"protein_id": "ENSP00000501589.1",
"strand": false,
"transcript": "ENST00000674923.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "V",
"aa_start": 1630,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11853,
"cdna_start": 5279,
"cds_end": null,
"cds_length": 6030,
"cds_start": 4888,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000303395.9",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4888G>A",
"hgvs_p": "p.Val1630Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303540.4",
"strand": false,
"transcript": "ENST00000303395.9",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "V",
"aa_start": 1619,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8097,
"cdna_start": 4873,
"cds_end": null,
"cds_length": 5997,
"cds_start": 4855,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000375405.7",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4855G>A",
"hgvs_p": "p.Val1619Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364554.3",
"strand": false,
"transcript": "ENST00000375405.7",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "V",
"aa_start": 1602,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7376,
"cdna_start": 5089,
"cds_end": null,
"cds_length": 5946,
"cds_start": 4804,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000409050.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4804G>A",
"hgvs_p": "p.Val1602Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386312.1",
"strand": false,
"transcript": "ENST00000409050.2",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "V",
"aa_start": 1630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12890,
"cdna_start": 5144,
"cds_end": null,
"cds_length": 6030,
"cds_start": 4888,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001202435.3",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4888G>A",
"hgvs_p": "p.Val1630Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001189364.1",
"strand": false,
"transcript": "NM_001202435.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "V",
"aa_start": 1630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12933,
"cdna_start": 5187,
"cds_end": null,
"cds_length": 6030,
"cds_start": 4888,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001353948.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4888G>A",
"hgvs_p": "p.Val1630Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340877.1",
"strand": false,
"transcript": "NM_001353948.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "V",
"aa_start": 1619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12765,
"cdna_start": 5019,
"cds_end": null,
"cds_length": 5997,
"cds_start": 4855,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001353949.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4855G>A",
"hgvs_p": "p.Val1619Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340878.1",
"strand": false,
"transcript": "NM_001353949.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "V",
"aa_start": 1619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12857,
"cdna_start": 5111,
"cds_end": null,
"cds_length": 5997,
"cds_start": 4855,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001353950.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4855G>A",
"hgvs_p": "p.Val1619Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340879.1",
"strand": false,
"transcript": "NM_001353950.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "V",
"aa_start": 1619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12900,
"cdna_start": 5154,
"cds_end": null,
"cds_length": 5997,
"cds_start": 4855,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001353951.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4855G>A",
"hgvs_p": "p.Val1619Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340880.1",
"strand": false,
"transcript": "NM_001353951.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "V",
"aa_start": 1619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12992,
"cdna_start": 5246,
"cds_end": null,
"cds_length": 5997,
"cds_start": 4855,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001353952.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4855G>A",
"hgvs_p": "p.Val1619Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340881.1",
"strand": false,
"transcript": "NM_001353952.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 1998,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13079,
"cdna_start": 5333,
"cds_end": null,
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"consequences": [
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],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_006920.6",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4855G>A",
"hgvs_p": "p.Val1619Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_008851.3",
"strand": false,
"transcript": "NM_006920.6",
"transcript_support_level": null
},
{
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"aa_length": 1998,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8299,
"cdna_start": 5072,
"cds_end": null,
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"consequences": [
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],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000635750.1",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4855G>A",
"hgvs_p": "p.Val1619Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490799.1",
"strand": false,
"transcript": "ENST00000635750.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
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"aa_length": 1998,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8562,
"cdna_start": 5335,
"cds_end": null,
"cds_length": 5997,
"cds_start": 4855,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000637988.1",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4855G>A",
"hgvs_p": "p.Val1619Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490780.1",
"strand": false,
"transcript": "ENST00000637988.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
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"aa_length": 1998,
"aa_ref": "V",
"aa_start": 1619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8131,
"cdna_start": 4904,
"cds_end": null,
"cds_length": 5997,
"cds_start": 4855,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000640036.1",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4855G>A",
"hgvs_p": "p.Val1619Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491573.1",
"strand": false,
"transcript": "ENST00000640036.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
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"aa_length": 1997,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12989,
"cdna_start": 5243,
"cds_end": null,
"cds_length": 5994,
"cds_start": 4852,
"consequences": [
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],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001353954.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4852G>A",
"hgvs_p": "p.Val1618Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340883.1",
"strand": false,
"transcript": "NM_001353954.2",
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},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_start": 5151,
"cds_end": null,
"cds_length": 5994,
"cds_start": 4852,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
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"feature": "NM_001353955.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4852G>A",
"hgvs_p": "p.Val1618Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001340884.1",
"strand": false,
"transcript": "NM_001353955.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 1997,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12874,
"cdna_start": 5128,
"cds_end": null,
"cds_length": 5994,
"cds_start": 4852,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000641575.1",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4852G>A",
"hgvs_p": "p.Val1618Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492917.1",
"strand": false,
"transcript": "ENST00000641575.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 1981,
"aa_ref": "V",
"aa_start": 1602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12941,
"cdna_start": 5195,
"cds_end": null,
"cds_length": 5946,
"cds_start": 4804,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001165964.3",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4804G>A",
"hgvs_p": "p.Val1602Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159436.1",
"strand": false,
"transcript": "NM_001165964.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "V",
"aa_start": 1602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12849,
"cdna_start": 5103,
"cds_end": null,
"cds_length": 5946,
"cds_start": 4804,
"consequences": [
"missense_variant"
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