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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: 19-48944456-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48944456&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48944456,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000221403.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDH",
"gene_hgnc_id": 17887,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "NM_014475.4",
"protein_id": "NP_055290.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 334,
"cds_start": 844,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": "ENST00000221403.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDH",
"gene_hgnc_id": 17887,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000221403.7",
"protein_id": "ENSP00000221403.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 334,
"cds_start": 844,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": "NM_014475.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDH",
"gene_hgnc_id": 17887,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Gly143Arg",
"transcript": "ENST00000523250.5",
"protein_id": "ENSP00000428935.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 195,
"cds_start": 427,
"cds_end": null,
"cds_length": 588,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDH",
"gene_hgnc_id": 17887,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Arg",
"transcript": "XM_017026598.2",
"protein_id": "XP_016882087.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 251,
"cds_start": 595,
"cds_end": null,
"cds_length": 756,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDH",
"gene_hgnc_id": 17887,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Gly170Arg",
"transcript": "XM_005258748.5",
"protein_id": "XP_005258805.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 222,
"cds_start": 508,
"cds_end": null,
"cds_length": 669,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 1473,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDH",
"gene_hgnc_id": 17887,
"hgvs_c": "n.*105G>A",
"hgvs_p": null,
"transcript": "ENST00000520557.1",
"protein_id": "ENSP00000430360.1",
"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": 715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDH",
"gene_hgnc_id": 17887,
"hgvs_c": "n.*105G>A",
"hgvs_p": null,
"transcript": "ENST00000520557.1",
"protein_id": "ENSP00000430360.1",
"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": 715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDH",
"gene_hgnc_id": 17887,
"hgvs_c": "c.*47G>A",
"hgvs_p": null,
"transcript": "XM_047438617.1",
"protein_id": "XP_047294573.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": -4,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DHDH",
"gene_hgnc_id": 17887,
"hgvs_c": "c.620-368G>A",
"hgvs_p": null,
"transcript": "ENST00000522614.5",
"protein_id": "ENSP00000428672.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": -4,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DHDH",
"gene_hgnc_id": 17887,
"dbsnp": "rs3765148",
"frequency_reference_population": 0.06314823,
"hom_count_reference_population": 3400,
"allele_count_reference_population": 101897,
"gnomad_exomes_af": 0.0620448,
"gnomad_genomes_af": 0.0737431,
"gnomad_exomes_ac": 90673,
"gnomad_genomes_ac": 11224,
"gnomad_exomes_homalt": 2935,
"gnomad_genomes_homalt": 465,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002423882484436035,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.6208,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.069,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000221403.7",
"gene_symbol": "DHDH",
"hgnc_id": 17887,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}