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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: 6-39315030-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=39315030&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 39315030,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032115.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.902C>A",
"hgvs_p": "p.Pro301His",
"transcript": "ENST00000373229.9",
"protein_id": "ENSP00000362326.5",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 309,
"cds_start": 902,
"cds_end": null,
"cds_length": 930,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.761C>A",
"hgvs_p": "p.Pro254His",
"transcript": "ENST00000373227.8",
"protein_id": "ENSP00000362324.4",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 262,
"cds_start": 761,
"cds_end": null,
"cds_length": 789,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*94C>A",
"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": -4,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.902C>A",
"hgvs_p": "p.Pro301His",
"transcript": "NM_032115.4",
"protein_id": "NP_115491.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 309,
"cds_start": 902,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.761C>A",
"hgvs_p": "p.Pro254His",
"transcript": "NM_001135107.2",
"protein_id": "NP_001128579.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 262,
"cds_start": 761,
"cds_end": null,
"cds_length": 789,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.566C>A",
"hgvs_p": "p.Pro189His",
"transcript": "NM_001363784.1",
"protein_id": "NP_001350713.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 197,
"cds_start": 566,
"cds_end": null,
"cds_length": 594,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 1139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.566C>A",
"hgvs_p": "p.Pro189His",
"transcript": "ENST00000507712.5",
"protein_id": "ENSP00000423842.1",
"transcript_support_level": 3,
"aa_start": 189,
"aa_end": null,
"aa_length": 197,
"cds_start": 566,
"cds_end": null,
"cds_length": 594,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.761C>A",
"hgvs_p": "p.Pro254His",
"transcript": "XM_017011346.2",
"protein_id": "XP_016866835.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 262,
"cds_start": 761,
"cds_end": null,
"cds_length": 789,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*94C>A",
"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": -4,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1557,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105375047",
"gene_hgnc_id": null,
"hgvs_c": "n.269+806G>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNK16",
"gene_hgnc_id": 14464,
"dbsnp": "rs11756091",
"frequency_reference_population": 0.50864834,
"hom_count_reference_population": 213657,
"allele_count_reference_population": 818288,
"gnomad_exomes_af": 0.499982,
"gnomad_genomes_af": 0.591655,
"gnomad_exomes_ac": 728308,
"gnomad_genomes_ac": 89980,
"gnomad_exomes_homalt": 185223,
"gnomad_genomes_homalt": 28434,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 9.861604439720395e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.0822,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.142,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_032115.4",
"gene_symbol": "KCNK16",
"hgnc_id": 14464,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.902C>A",
"hgvs_p": "p.Pro301His"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_926774.3",
"gene_symbol": "LOC105375047",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.269+806G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}