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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: 3-38630393-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38630393&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCN5A",
"hgnc_id": 10593,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 20,
"score": 20,
"transcript": "NM_198056.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 20,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8831,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.57,
"chr": "3",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "8 conditions,Brugada syndrome,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome 1,Cardiovascular phenotype,Sick sinus syndrome 1,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:2 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9957736134529114,
"computational_source_selected": "CardioboostCm",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2016,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8519,
"cdna_start": 519,
"cds_end": null,
"cds_length": 6051,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001099404.2",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000413689.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001092874.1",
"strand": false,
"transcript": "NM_001099404.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2016,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8519,
"cdna_start": 519,
"cds_end": null,
"cds_length": 6051,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000413689.6",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001099404.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410257.1",
"strand": false,
"transcript": "ENST00000413689.6",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2015,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8516,
"cdna_start": 519,
"cds_end": null,
"cds_length": 6048,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000335.5",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000423572.7",
"protein_coding": true,
"protein_id": "NP_000326.2",
"strand": false,
"transcript": "NM_000335.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2015,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8516,
"cdna_start": 519,
"cds_end": null,
"cds_length": 6048,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000423572.7",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000335.5",
"protein_coding": true,
"protein_id": "ENSP00000398266.2",
"strand": false,
"transcript": "ENST00000423572.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2016,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8519,
"cdna_start": 519,
"cds_end": null,
"cds_length": 6051,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000333535.9",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000328968.4",
"strand": false,
"transcript": "ENST00000333535.9",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2015,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8445,
"cdna_start": 448,
"cds_end": null,
"cds_length": 6048,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000327956.7",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000333674.7",
"strand": false,
"transcript": "ENST00000327956.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8303,
"cdna_start": 352,
"cds_end": null,
"cds_length": 5997,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000414099.6",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398962.2",
"strand": false,
"transcript": "ENST00000414099.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1983,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7170,
"cdna_start": 335,
"cds_end": null,
"cds_length": 5952,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000455624.6",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399524.2",
"strand": false,
"transcript": "ENST00000455624.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1962,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6284,
"cdna_start": 352,
"cds_end": null,
"cds_length": 5889,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000450102.6",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403355.2",
"strand": false,
"transcript": "ENST00000450102.6",
"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": 1382,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000491944.1",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "n.505C>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": "ENST00000491944.1",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2016,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8519,
"cdna_start": 519,
"cds_end": null,
"cds_length": 6051,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_198056.3",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_932173.1",
"strand": false,
"transcript": "NM_198056.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8465,
"cdna_start": 519,
"cds_end": null,
"cds_length": 5997,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001099405.2",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001092875.1",
"strand": false,
"transcript": "NM_001099405.2",
"transcript_support_level": null
},
{
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"aa_length": 1997,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8462,
"cdna_start": 519,
"cds_end": null,
"cds_length": 5994,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001354701.2",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341630.1",
"strand": false,
"transcript": "NM_001354701.2",
"transcript_support_level": null
},
{
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"aa_length": 1983,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8420,
"cdna_start": 519,
"cds_end": null,
"cds_length": 5952,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001160160.2",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153632.1",
"strand": false,
"transcript": "NM_001160160.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8357,
"cdna_start": 519,
"cds_end": null,
"cds_length": 5889,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001160161.2",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153633.1",
"strand": false,
"transcript": "NM_001160161.2",
"transcript_support_level": null
},
{
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"aa_length": 1962,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5898,
"cdna_start": 319,
"cds_end": null,
"cds_length": 5889,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000449557.6",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413996.2",
"strand": false,
"transcript": "ENST00000449557.6",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1918,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 8215,
"cdna_start": 510,
"cds_end": null,
"cds_length": 5757,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000970295.1",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640354.1",
"strand": false,
"transcript": "ENST00000970295.1",
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},
{
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"aa_ref": "R",
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"cdna_start": 519,
"cds_end": null,
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"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001407185.1",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394114.1",
"strand": false,
"transcript": "NM_001407185.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 173,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1080,
"cdna_start": 519,
"cds_end": null,
"cds_length": 522,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001407186.1",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394115.1",
"strand": false,
"transcript": "NM_001407186.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2015,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8516,
"cdna_start": 519,
"cds_end": null,
"cds_length": 6048,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011533991.3",
"gene_hgnc_id": 10593,
"gene_symbol": "SCN5A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532293.1",
"strand": false,
"transcript": "XM_011533991.3",
"transcript_support_level": null
},
{
"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": 774,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
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]
}