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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: 1-160042293-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160042293&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160042293,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000644903.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.240C>G",
"hgvs_p": "p.Phe80Leu",
"transcript": "NM_002241.5",
"protein_id": "NP_002232.2",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 379,
"cds_start": 240,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": "ENST00000644903.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.240C>G",
"hgvs_p": "p.Phe80Leu",
"transcript": "ENST00000644903.1",
"protein_id": "ENSP00000495557.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 379,
"cds_start": 240,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": "NM_002241.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.240C>G",
"hgvs_p": "p.Phe80Leu",
"transcript": "ENST00000638728.1",
"protein_id": "ENSP00000492619.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 379,
"cds_start": 240,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.240C>G",
"hgvs_p": "p.Phe80Leu",
"transcript": "ENST00000638868.1",
"protein_id": "ENSP00000491250.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 379,
"cds_start": 240,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.210C>G",
"hgvs_p": "p.Phe70Leu",
"transcript": "ENST00000509700.2",
"protein_id": "ENSP00000491416.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 247,
"cds_start": 210,
"cds_end": null,
"cds_length": 744,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.210C>G",
"hgvs_p": "p.Phe70Leu",
"transcript": "ENST00000640017.1",
"protein_id": "ENSP00000491337.1",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 245,
"cds_start": 210,
"cds_end": null,
"cds_length": 738,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.240C>G",
"hgvs_p": "p.Phe80Leu",
"transcript": "ENST00000639408.2",
"protein_id": "ENSP00000491635.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 207,
"cds_start": 240,
"cds_end": null,
"cds_length": 624,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.240C>G",
"hgvs_p": "p.Phe80Leu",
"transcript": "ENST00000637644.1",
"protein_id": "ENSP00000490282.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 170,
"cds_start": 240,
"cds_end": null,
"cds_length": 513,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "n.95-2945C>G",
"hgvs_p": null,
"transcript": "ENST00000636689.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "n.-40C>G",
"hgvs_p": null,
"transcript": "ENST00000638840.1",
"protein_id": "ENSP00000492249.1",
"transcript_support_level": 5,
"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": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"dbsnp": "rs774758209",
"frequency_reference_population": 0.0000027367157,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273672,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5124797224998474,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.541,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8034,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.721,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000644903.1",
"gene_symbol": "KCNJ10",
"hgnc_id": 6256,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.240C>G",
"hgvs_p": "p.Phe80Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}