← Back to variant description
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: 6-39315040-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=39315040&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 39315040,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_032115.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK16",
"gene_hgnc_id": 14464,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Gln298*",
"transcript": "ENST00000373229.9",
"protein_id": "ENSP00000362326.5",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 309,
"cds_start": 892,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373229.9"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK16",
"gene_hgnc_id": 14464,
"hgvs_c": "c.751C>T",
"hgvs_p": "p.Gln251*",
"transcript": "ENST00000373227.8",
"protein_id": "ENSP00000362324.4",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 262,
"cds_start": 751,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373227.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK16",
"gene_hgnc_id": 14464,
"hgvs_c": "c.*84C>T",
"hgvs_p": null,
"transcript": "ENST00000425054.6",
"protein_id": "ENSP00000391498.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425054.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK16",
"gene_hgnc_id": 14464,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Gln298*",
"transcript": "NM_032115.4",
"protein_id": "NP_115491.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 309,
"cds_start": 892,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032115.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK16",
"gene_hgnc_id": 14464,
"hgvs_c": "c.751C>T",
"hgvs_p": "p.Gln251*",
"transcript": "NM_001135107.2",
"protein_id": "NP_001128579.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 262,
"cds_start": 751,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135107.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK16",
"gene_hgnc_id": 14464,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Gln186*",
"transcript": "NM_001363784.1",
"protein_id": "NP_001350713.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 197,
"cds_start": 556,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363784.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK16",
"gene_hgnc_id": 14464,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Gln186*",
"transcript": "ENST00000507712.5",
"protein_id": "ENSP00000423842.1",
"transcript_support_level": 3,
"aa_start": 186,
"aa_end": null,
"aa_length": 197,
"cds_start": 556,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507712.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK16",
"gene_hgnc_id": 14464,
"hgvs_c": "c.751C>T",
"hgvs_p": "p.Gln251*",
"transcript": "XM_017011346.2",
"protein_id": "XP_016866835.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 262,
"cds_start": 751,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011346.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK16",
"gene_hgnc_id": 14464,
"hgvs_c": "c.*84C>T",
"hgvs_p": null,
"transcript": "NM_001135105.2",
"protein_id": "NP_001128577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135105.2"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105375047",
"gene_hgnc_id": null,
"hgvs_c": "n.269+816G>A",
"hgvs_p": null,
"transcript": "XR_926774.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_926774.3"
}
],
"gene_symbol": "KCNK16",
"gene_hgnc_id": 14464,
"dbsnp": "rs138573996",
"frequency_reference_population": 0.003895708,
"hom_count_reference_population": 28,
"allele_count_reference_population": 6285,
"gnomad_exomes_af": 0.00396856,
"gnomad_genomes_af": 0.00319696,
"gnomad_exomes_ac": 5798,
"gnomad_genomes_ac": 487,
"gnomad_exomes_homalt": 26,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.438,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_032115.4",
"gene_symbol": "KCNK16",
"hgnc_id": 14464,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Gln298*"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_926774.3",
"gene_symbol": "LOC105375047",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.269+816G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}