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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: 2-9588251-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=9588251&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 9588251,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006826.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "NM_006826.4",
"protein_id": "NP_006817.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 245,
"cds_start": 496,
"cds_end": null,
"cds_length": 738,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": "ENST00000238081.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006826.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000238081.8",
"protein_id": "ENSP00000238081.3",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 245,
"cds_start": 496,
"cds_end": null,
"cds_length": 738,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": "NM_006826.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238081.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000381844.8",
"protein_id": "ENSP00000371267.4",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 245,
"cds_start": 496,
"cds_end": null,
"cds_length": 738,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381844.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Ile188Val",
"transcript": "ENST00000862428.1",
"protein_id": "ENSP00000532487.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 267,
"cds_start": 562,
"cds_end": null,
"cds_length": 804,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862428.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"hgvs_c": "c.520A>G",
"hgvs_p": "p.Ile174Val",
"transcript": "ENST00000862429.1",
"protein_id": "ENSP00000532488.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 253,
"cds_start": 520,
"cds_end": null,
"cds_length": 762,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862429.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000862425.1",
"protein_id": "ENSP00000532484.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 245,
"cds_start": 496,
"cds_end": null,
"cds_length": 738,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862425.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000862427.1",
"protein_id": "ENSP00000532486.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 245,
"cds_start": 496,
"cds_end": null,
"cds_length": 738,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862427.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Ile163Val",
"transcript": "ENST00000862426.1",
"protein_id": "ENSP00000532485.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 242,
"cds_start": 487,
"cds_end": null,
"cds_length": 729,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862426.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"hgvs_c": "c.481A>G",
"hgvs_p": "p.Ile161Val",
"transcript": "ENST00000961210.1",
"protein_id": "ENSP00000631269.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 240,
"cds_start": 481,
"cds_end": null,
"cds_length": 723,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961210.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"transcript": "ENST00000932234.1",
"protein_id": "ENSP00000602293.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 213,
"cds_start": 496,
"cds_end": null,
"cds_length": 642,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932234.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"hgvs_c": "c.295-742A>G",
"hgvs_p": null,
"transcript": "ENST00000862430.1",
"protein_id": "ENSP00000532489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862430.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"hgvs_c": "n.262A>G",
"hgvs_p": null,
"transcript": "ENST00000474715.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 709,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000474715.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"hgvs_c": "c.*47A>G",
"hgvs_p": null,
"transcript": "ENST00000446619.1",
"protein_id": "ENSP00000398990.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": null,
"cds_end": null,
"cds_length": 449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446619.1"
}
],
"gene_symbol": "YWHAQ",
"gene_hgnc_id": 12854,
"dbsnp": "rs200884745",
"frequency_reference_population": 0.000006836315,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000617767,
"gnomad_genomes_af": 0.0000131411,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46326231956481934,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.334,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5639,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.227,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006826.4",
"gene_symbol": "YWHAQ",
"hgnc_id": 12854,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}