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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: 16-23380661-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23380661&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 23380661,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000343070.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1789delC",
"hgvs_p": "p.Arg597fs",
"transcript": "NM_000336.3",
"protein_id": "NP_000327.2",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 640,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": "ENST00000343070.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1789delC",
"hgvs_p": "p.Arg597fs",
"transcript": "ENST00000343070.7",
"protein_id": "ENSP00000345751.2",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 640,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": "NM_000336.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1924delC",
"hgvs_p": "p.Arg642fs",
"transcript": "ENST00000307331.9",
"protein_id": "ENSP00000302874.5",
"transcript_support_level": 5,
"aa_start": 642,
"aa_end": null,
"aa_length": 685,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1951,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1708delC",
"hgvs_p": "p.Arg570fs",
"transcript": "ENST00000568923.5",
"protein_id": "ENSP00000456309.1",
"transcript_support_level": 3,
"aa_start": 570,
"aa_end": null,
"aa_length": 613,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1681delC",
"hgvs_p": "p.Arg561fs",
"transcript": "NM_001410900.1",
"protein_id": "NP_001397829.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 604,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1681delC",
"hgvs_p": "p.Arg561fs",
"transcript": "ENST00000568085.5",
"protein_id": "ENSP00000455673.1",
"transcript_support_level": 3,
"aa_start": 561,
"aa_end": null,
"aa_length": 604,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1846delC",
"hgvs_p": "p.Arg616fs",
"transcript": "XM_017023525.2",
"protein_id": "XP_016879014.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 659,
"cds_start": 1846,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1822delC",
"hgvs_p": "p.Arg608fs",
"transcript": "XM_011545913.3",
"protein_id": "XP_011544215.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 651,
"cds_start": 1822,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1807delC",
"hgvs_p": "p.Arg603fs",
"transcript": "XM_011545914.2",
"protein_id": "XP_011544216.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 646,
"cds_start": 1807,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "n.*794delC",
"hgvs_p": null,
"transcript": "ENST00000564275.5",
"protein_id": "ENSP00000457754.1",
"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": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "n.*794delC",
"hgvs_p": null,
"transcript": "ENST00000564275.5",
"protein_id": "ENSP00000457754.1",
"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": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"dbsnp": "rs758629218",
"frequency_reference_population": 0.0000012403808,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84823e-7,
"gnomad_genomes_af": 0.00000657134,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.068,
"phylop100way_prediction": "Benign",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000343070.7",
"gene_symbol": "SCNN1B",
"hgnc_id": 10600,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1789delC",
"hgvs_p": "p.Arg597fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}