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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: 6-24357568-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24357568&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 24357568,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000378454.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC2",
"gene_hgnc_id": 18141,
"hgvs_c": "c.183C>G",
"hgvs_p": "p.Ala61Ala",
"transcript": "NM_016356.5",
"protein_id": "NP_057440.2",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 476,
"cds_start": 183,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 4715,
"mane_select": "ENST00000378454.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC2",
"gene_hgnc_id": 18141,
"hgvs_c": "c.183C>G",
"hgvs_p": "p.Ala61Ala",
"transcript": "ENST00000378454.8",
"protein_id": "ENSP00000367715.3",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 476,
"cds_start": 183,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 4715,
"mane_select": "NM_016356.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAAG1",
"gene_hgnc_id": 21031,
"hgvs_c": "n.666G>C",
"hgvs_p": null,
"transcript": "ENST00000274766.2",
"protein_id": null,
"transcript_support_level": 6,
"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": 1383,
"mane_select": "NM_181337.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC2",
"gene_hgnc_id": 18141,
"hgvs_c": "c.183C>G",
"hgvs_p": "p.Ala61Ala",
"transcript": "NM_001195610.2",
"protein_id": "NP_001182539.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 476,
"cds_start": 183,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 4615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC2",
"gene_hgnc_id": 18141,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Ala28Ala",
"transcript": "ENST00000436313.1",
"protein_id": "ENSP00000410939.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 87,
"cds_start": 84,
"cds_end": null,
"cds_length": 264,
"cdna_start": 86,
"cdna_end": null,
"cdna_length": 339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAAG1",
"gene_hgnc_id": 21031,
"hgvs_c": "n.666G>C",
"hgvs_p": null,
"transcript": "NR_174942.1",
"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": 1383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DCDC2",
"gene_hgnc_id": 18141,
"dbsnp": "rs33943110",
"frequency_reference_population": 0.000004959032,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000479065,
"gnomad_genomes_af": 0.0000065773,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05299999937415123,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.411,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000378454.8",
"gene_symbol": "DCDC2",
"hgnc_id": 18141,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.183C>G",
"hgvs_p": "p.Ala61Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_174942.1",
"gene_symbol": "KAAG1",
"hgnc_id": 21031,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.666G>C",
"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
}