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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: 12-6349331-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6349331&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6349331,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000228916.7",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Cys479Arg",
"transcript": "NM_001038.6",
"protein_id": "NP_001029.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 669,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 3149,
"mane_select": "ENST00000228916.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Cys479Arg",
"transcript": "ENST00000228916.7",
"protein_id": "ENSP00000228916.2",
"transcript_support_level": 1,
"aa_start": 479,
"aa_end": null,
"aa_length": 669,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 3149,
"mane_select": "NM_001038.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1612T>C",
"hgvs_p": "p.Cys538Arg",
"transcript": "ENST00000360168.7",
"protein_id": "ENSP00000353292.3",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 728,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.535T>C",
"hgvs_p": "p.Cys179Arg",
"transcript": "ENST00000540037.5",
"protein_id": "ENSP00000440876.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 369,
"cds_start": 535,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1612T>C",
"hgvs_p": "p.Cys538Arg",
"transcript": "NM_001159576.2",
"protein_id": "NP_001153048.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 728,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1504T>C",
"hgvs_p": "p.Cys502Arg",
"transcript": "NM_001159575.2",
"protein_id": "NP_001153047.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 692,
"cds_start": 1504,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1504T>C",
"hgvs_p": "p.Cys502Arg",
"transcript": "ENST00000543768.1",
"protein_id": "ENSP00000438739.1",
"transcript_support_level": 2,
"aa_start": 502,
"aa_end": null,
"aa_length": 692,
"cds_start": 1504,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Cys479Arg",
"transcript": "ENST00000396966.6",
"protein_id": "ENSP00000380166.2",
"transcript_support_level": 3,
"aa_start": 479,
"aa_end": null,
"aa_length": 511,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "n.*506T>C",
"hgvs_p": null,
"transcript": "ENST00000338748.9",
"protein_id": "ENSP00000345028.5",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "n.382T>C",
"hgvs_p": null,
"transcript": "ENST00000457871.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "n.*506T>C",
"hgvs_p": null,
"transcript": "ENST00000338748.9",
"protein_id": "ENSP00000345028.5",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107984500",
"gene_hgnc_id": null,
"hgvs_c": "n.87+1064A>G",
"hgvs_p": null,
"transcript": "XR_007063191.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "n.-228T>C",
"hgvs_p": null,
"transcript": "ENST00000539953.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"dbsnp": "rs201873521",
"frequency_reference_population": 0.0001227216,
"hom_count_reference_population": 0,
"allele_count_reference_population": 198,
"gnomad_exomes_af": 0.000119757,
"gnomad_genomes_af": 0.000151198,
"gnomad_exomes_ac": 175,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9897499084472656,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.899,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.984,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.815,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PP3_Strong",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000228916.7",
"gene_symbol": "SCNN1A",
"hgnc_id": 10599,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Cys479Arg"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PP3_Strong",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007063191.1",
"gene_symbol": "LOC107984500",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.87+1064A>G",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive, type IB1,Bronchiectasis with or without elevated sweat chloride 2,Liddle syndrome 3,Pseudohypoaldosteronism,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Liddle syndrome 3|Liddle syndrome 3;Pseudohypoaldosteronism, type IB1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 2|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}