← 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: 20-63494832-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63494832&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63494832,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000217182.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Gly198Gly",
"transcript": "NM_001958.5",
"protein_id": "NP_001949.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 463,
"cds_start": 594,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": "ENST00000217182.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Gly198Gly",
"transcript": "ENST00000217182.6",
"protein_id": "ENSP00000217182.3",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 463,
"cds_start": 594,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": "NM_001958.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Gly198Gly",
"transcript": "ENST00000298049.13",
"protein_id": "ENSP00000298049.9",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 549,
"cds_start": 594,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 12112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Gly198Gly",
"transcript": "ENST00000706949.1",
"protein_id": "ENSP00000516669.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 512,
"cds_start": 594,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Gly198Gly",
"transcript": "ENST00000706948.1",
"protein_id": "ENSP00000516668.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 449,
"cds_start": 594,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "n.3163T>C",
"hgvs_p": null,
"transcript": "ENST00000645586.1",
"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": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "n.*466T>C",
"hgvs_p": null,
"transcript": "ENST00000675519.1",
"protein_id": "ENSP00000501859.1",
"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": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "n.594T>C",
"hgvs_p": null,
"transcript": "ENST00000850883.1",
"protein_id": "ENSP00000520961.1",
"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": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "n.*466T>C",
"hgvs_p": null,
"transcript": "ENST00000675519.1",
"protein_id": "ENSP00000501859.1",
"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": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "c.*73T>C",
"hgvs_p": null,
"transcript": "ENST00000642899.1",
"protein_id": "ENSP00000493767.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": -4,
"cds_end": null,
"cds_length": 521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "c.*136T>C",
"hgvs_p": null,
"transcript": "ENST00000645357.1",
"protein_id": "ENSP00000494971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"dbsnp": "rs310617",
"frequency_reference_population": 0.5749684,
"hom_count_reference_population": 268138,
"allele_count_reference_population": 926511,
"gnomad_exomes_af": 0.57462,
"gnomad_genomes_af": 0.578313,
"gnomad_exomes_ac": 838538,
"gnomad_genomes_ac": 87973,
"gnomad_exomes_homalt": 242562,
"gnomad_genomes_homalt": 25576,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.77,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000217182.6",
"gene_symbol": "EEF1A2",
"hgnc_id": 3192,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Gly198Gly"
}
],
"clinvar_disease": " 33, autosomal dominant 38,Developmental and epileptic encephalopathy,Inborn genetic diseases,Intellectual disability,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|not provided|Developmental and epileptic encephalopathy, 33|Intellectual disability, autosomal dominant 38|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}