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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: 1-67687768-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=67687768&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 67687768,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001924.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADD45A",
"gene_hgnc_id": 4095,
"hgvs_c": "c.492A>G",
"hgvs_p": "p.Glu164Glu",
"transcript": "NM_001924.4",
"protein_id": "NP_001915.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 165,
"cds_start": 492,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370986.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001924.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADD45A",
"gene_hgnc_id": 4095,
"hgvs_c": "c.492A>G",
"hgvs_p": "p.Glu164Glu",
"transcript": "ENST00000370986.9",
"protein_id": "ENSP00000360025.4",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 165,
"cds_start": 492,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001924.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370986.9"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADD45A",
"gene_hgnc_id": 4095,
"hgvs_c": "c.438A>G",
"hgvs_p": "p.Glu146Glu",
"transcript": "ENST00000617962.2",
"protein_id": "ENSP00000482814.2",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 147,
"cds_start": 438,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617962.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADD45A",
"gene_hgnc_id": 4095,
"hgvs_c": "c.390A>G",
"hgvs_p": "p.Glu130Glu",
"transcript": "ENST00000370985.4",
"protein_id": "ENSP00000360024.3",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 131,
"cds_start": 390,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370985.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADD45A",
"gene_hgnc_id": 4095,
"hgvs_c": "c.390A>G",
"hgvs_p": "p.Glu130Glu",
"transcript": "NM_001199741.2",
"protein_id": "NP_001186670.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 131,
"cds_start": 390,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199741.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADD45A",
"gene_hgnc_id": 4095,
"hgvs_c": "c.*71A>G",
"hgvs_p": null,
"transcript": "NM_001199742.2",
"protein_id": "NP_001186671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 60,
"cds_start": null,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199742.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADD45A",
"gene_hgnc_id": 4095,
"hgvs_c": "c.*71A>G",
"hgvs_p": null,
"transcript": "ENST00000650283.1",
"protein_id": "ENSP00000496875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 60,
"cds_start": null,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650283.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GADD45A",
"gene_hgnc_id": 4095,
"hgvs_c": "c.*71A>G",
"hgvs_p": null,
"transcript": "ENST00000648742.1",
"protein_id": "ENSP00000497697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 26,
"cds_start": null,
"cds_end": null,
"cds_length": 81,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648742.1"
}
],
"gene_symbol": "GADD45A",
"gene_hgnc_id": 4095,
"dbsnp": "rs3783478",
"frequency_reference_population": 0.0015622631,
"hom_count_reference_population": 36,
"allele_count_reference_population": 2494,
"gnomad_exomes_af": 0.000806046,
"gnomad_genomes_af": 0.00873185,
"gnomad_exomes_ac": 1164,
"gnomad_genomes_ac": 1330,
"gnomad_exomes_homalt": 19,
"gnomad_genomes_homalt": 17,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"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": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.358,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001924.4",
"gene_symbol": "GADD45A",
"hgnc_id": 4095,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.492A>G",
"hgvs_p": "p.Glu164Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}