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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: 2-117817561-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=117817561&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 117817561,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006773.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "NM_006773.4",
"protein_id": "NP_006764.3",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 670,
"cds_start": 203,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263239.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006773.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000263239.7",
"protein_id": "ENSP00000263239.2",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 670,
"cds_start": 203,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006773.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263239.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000898166.1",
"protein_id": "ENSP00000568225.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 701,
"cds_start": 203,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898166.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000921666.1",
"protein_id": "ENSP00000591725.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 678,
"cds_start": 203,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921666.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000921664.1",
"protein_id": "ENSP00000591723.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 669,
"cds_start": 203,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921664.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000898169.1",
"protein_id": "ENSP00000568228.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 668,
"cds_start": 203,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898169.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000898172.1",
"protein_id": "ENSP00000568231.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 656,
"cds_start": 203,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898172.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000921669.1",
"protein_id": "ENSP00000591728.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 655,
"cds_start": 203,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921669.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000898173.1",
"protein_id": "ENSP00000568232.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 651,
"cds_start": 203,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898173.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000898168.1",
"protein_id": "ENSP00000568227.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 650,
"cds_start": 203,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898168.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000898170.1",
"protein_id": "ENSP00000568229.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 632,
"cds_start": 203,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898170.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000921665.1",
"protein_id": "ENSP00000591724.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 616,
"cds_start": 203,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921665.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000898167.1",
"protein_id": "ENSP00000568226.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 607,
"cds_start": 203,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898167.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000921667.1",
"protein_id": "ENSP00000591726.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 602,
"cds_start": 203,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921667.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000921668.1",
"protein_id": "ENSP00000591727.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 588,
"cds_start": 203,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921668.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000898171.1",
"protein_id": "ENSP00000568230.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 587,
"cds_start": 203,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898171.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"hgvs_c": "n.189C>T",
"hgvs_p": null,
"transcript": "ENST00000474694.1",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000474694.1"
}
],
"gene_symbol": "DDX18",
"gene_hgnc_id": 2741,
"dbsnp": "rs1679780326",
"frequency_reference_population": 0.0000020523878,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205239,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05344441533088684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.079,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.623,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006773.4",
"gene_symbol": "DDX18",
"hgnc_id": 2741,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile"
}
],
"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
}