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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: 12-6374543-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6374543&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCNN1A",
"hgnc_id": 10599,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001159576.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_score": 4,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.2983,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.04,
"chr": "12",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Bronchiectasis with or without elevated sweat chloride 2",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8062731623649597,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 354,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001038.6",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000228916.7",
"protein_coding": true,
"protein_id": "NP_001029.1",
"strand": false,
"transcript": "NM_001038.6",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 354,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000228916.7",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001038.6",
"protein_coding": true,
"protein_id": "ENSP00000228916.2",
"strand": false,
"transcript": "ENST00000228916.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 728,
"aa_ref": "R",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3481,
"cdna_start": 682,
"cds_end": null,
"cds_length": 2187,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000360168.7",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353292.3",
"strand": false,
"transcript": "ENST00000360168.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 728,
"aa_ref": "R",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": 908,
"cds_end": null,
"cds_length": 2187,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001159576.2",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153048.1",
"strand": false,
"transcript": "NM_001159576.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 403,
"cds_end": null,
"cds_length": 2079,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001159575.2",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153047.1",
"strand": false,
"transcript": "NM_001159575.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 403,
"cds_end": null,
"cds_length": 2079,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000543768.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438739.1",
"strand": false,
"transcript": "ENST00000543768.1",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 425,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868221.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538280.1",
"strand": false,
"transcript": "ENST00000868221.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3422,
"cdna_start": 631,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868222.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538281.1",
"strand": false,
"transcript": "ENST00000868222.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": 414,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868223.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538282.1",
"strand": false,
"transcript": "ENST00000868223.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3631,
"cdna_start": 835,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868224.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538283.1",
"strand": false,
"transcript": "ENST00000868224.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3187,
"cdna_start": 392,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868225.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538284.1",
"strand": false,
"transcript": "ENST00000868225.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 419,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868226.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538285.1",
"strand": false,
"transcript": "ENST00000868226.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3181,
"cdna_start": 386,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868227.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538286.1",
"strand": false,
"transcript": "ENST00000868227.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3104,
"cdna_start": 305,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868228.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538287.1",
"strand": false,
"transcript": "ENST00000868228.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3140,
"cdna_start": 345,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868229.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538288.1",
"strand": false,
"transcript": "ENST00000868229.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868230.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538289.1",
"strand": false,
"transcript": "ENST00000868230.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3449,
"cdna_start": 654,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868231.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538290.1",
"strand": false,
"transcript": "ENST00000868231.1",
"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": 3252,
"cdna_start": 460,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868232.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538291.1",
"strand": false,
"transcript": "ENST00000868232.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 388,
"cds_end": null,
"cds_length": 2010,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930631.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600690.1",
"strand": false,
"transcript": "ENST00000930631.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 511,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 261,
"cds_end": null,
"cds_length": 1536,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000396966.6",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380166.2",
"strand": false,
"transcript": "ENST00000396966.6",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 158,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 533,
"cdna_start": 359,
"cds_end": null,
"cds_length": 478,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000536788.1",
"gene_hgnc_id": 10599,
"gene_symbol": "SCNN1A",
"hgvs_c": "c.304C>T",
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