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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: 16-56884142-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56884142&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56884142,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000563236.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.1763C>A",
"hgvs_p": "p.Ala588Glu",
"transcript": "NM_001126108.2",
"protein_id": "NP_001119580.2",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1763,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 5540,
"mane_select": "ENST00000563236.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.1763C>A",
"hgvs_p": "p.Ala588Glu",
"transcript": "ENST00000563236.6",
"protein_id": "ENSP00000456149.2",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1763,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 5540,
"mane_select": "NM_001126108.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.1763C>A",
"hgvs_p": "p.Ala588Glu",
"transcript": "ENST00000438926.6",
"protein_id": "ENSP00000402152.2",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 1030,
"cds_start": 1763,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.1760C>A",
"hgvs_p": "p.Ala587Glu",
"transcript": "ENST00000566786.5",
"protein_id": "ENSP00000457552.1",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 1029,
"cds_start": 1760,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.1763C>A",
"hgvs_p": "p.Ala588Glu",
"transcript": "NM_000339.3",
"protein_id": "NP_000330.3",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1030,
"cds_start": 1763,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.1760C>A",
"hgvs_p": "p.Ala587Glu",
"transcript": "NM_001126107.2",
"protein_id": "NP_001119579.2",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 1029,
"cds_start": 1760,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 5564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.1760C>A",
"hgvs_p": "p.Ala587Glu",
"transcript": "NM_001410896.1",
"protein_id": "NP_001397825.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1760,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 5537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.1760C>A",
"hgvs_p": "p.Ala587Glu",
"transcript": "ENST00000262502.5",
"protein_id": "ENSP00000262502.5",
"transcript_support_level": 5,
"aa_start": 587,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1760,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"dbsnp": "rs121909382",
"frequency_reference_population": 0.000017966959,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000184698,
"gnomad_genomes_af": 0.0000131382,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9715176224708557,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.976,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9221,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.807,
"phylop100way_prediction": "Pathogenic",
"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": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000563236.6",
"gene_symbol": "SLC12A3",
"hgnc_id": 10912,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1763C>A",
"hgvs_p": "p.Ala588Glu"
}
],
"clinvar_disease": "Familial hypokalemia-hypomagnesemia,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "not provided|Familial hypokalemia-hypomagnesemia",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}