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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: 16-23348844-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23348844&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 23348844,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000343070.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.245C>G",
"hgvs_p": "p.Ser82Cys",
"transcript": "NM_000336.3",
"protein_id": "NP_000327.2",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 640,
"cds_start": 245,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": "ENST00000343070.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.245C>G",
"hgvs_p": "p.Ser82Cys",
"transcript": "ENST00000343070.7",
"protein_id": "ENSP00000345751.2",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 640,
"cds_start": 245,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": "NM_000336.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.380C>G",
"hgvs_p": "p.Ser127Cys",
"transcript": "ENST00000307331.9",
"protein_id": "ENSP00000302874.5",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 685,
"cds_start": 380,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.245C>G",
"hgvs_p": "p.Ser82Cys",
"transcript": "ENST00000568923.5",
"protein_id": "ENSP00000456309.1",
"transcript_support_level": 3,
"aa_start": 82,
"aa_end": null,
"aa_length": 613,
"cds_start": 245,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.245C>G",
"hgvs_p": "p.Ser82Cys",
"transcript": "NM_001410900.1",
"protein_id": "NP_001397829.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 604,
"cds_start": 245,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.245C>G",
"hgvs_p": "p.Ser82Cys",
"transcript": "ENST00000568085.5",
"protein_id": "ENSP00000455673.1",
"transcript_support_level": 3,
"aa_start": 82,
"aa_end": null,
"aa_length": 604,
"cds_start": 245,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Ser101Cys",
"transcript": "XM_017023525.2",
"protein_id": "XP_016879014.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 659,
"cds_start": 302,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.278C>G",
"hgvs_p": "p.Ser93Cys",
"transcript": "XM_011545913.3",
"protein_id": "XP_011544215.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 651,
"cds_start": 278,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.263C>G",
"hgvs_p": "p.Ser88Cys",
"transcript": "XM_011545914.2",
"protein_id": "XP_011544216.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 646,
"cds_start": 263,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 279,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "n.245C>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "n.50C>G",
"hgvs_p": null,
"transcript": "ENST00000566870.1",
"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": 560,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "n.431C>G",
"hgvs_p": null,
"transcript": "ENST00000569789.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"dbsnp": "rs35731153",
"frequency_reference_population": 0.00717524,
"hom_count_reference_population": 63,
"allele_count_reference_population": 11582,
"gnomad_exomes_af": 0.0074596,
"gnomad_genomes_af": 0.00444552,
"gnomad_exomes_ac": 10905,
"gnomad_genomes_ac": 677,
"gnomad_exomes_homalt": 60,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.018293321132659912,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.529,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5164,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.826,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000343070.7",
"gene_symbol": "SCNN1B",
"hgnc_id": 10600,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.245C>G",
"hgvs_p": "p.Ser82Cys"
}
],
"clinvar_disease": " autosomal recessive, type IB1,Bronchiectasis with or without elevated sweat chloride 1,Liddle syndrome 1,Pseudohypoaldosteronism,SCNN1B-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:8",
"phenotype_combined": "Bronchiectasis with or without elevated sweat chloride 1|not specified|not provided|Liddle syndrome 1|Pseudohypoaldosteronism, type IB1, autosomal recessive|SCNN1B-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}