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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: 4-168316513-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=168316513&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 168316513,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_017631.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-107+2109C>T",
"hgvs_p": null,
"transcript": "NM_017631.6",
"protein_id": "NP_060101.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1712,
"cds_start": null,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393743.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017631.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-107+2109C>T",
"hgvs_p": null,
"transcript": "ENST00000393743.8",
"protein_id": "ENSP00000377344.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1712,
"cds_start": null,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017631.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393743.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-107+1661C>T",
"hgvs_p": null,
"transcript": "ENST00000902213.1",
"protein_id": "ENSP00000572272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1712,
"cds_start": null,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902213.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-107+2109C>T",
"hgvs_p": null,
"transcript": "NM_001410861.1",
"protein_id": "NP_001397790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1682,
"cds_start": null,
"cds_end": null,
"cds_length": 5049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-107+2109C>T",
"hgvs_p": null,
"transcript": "ENST00000680771.1",
"protein_id": "ENSP00000505292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1682,
"cds_start": null,
"cds_end": null,
"cds_length": 5049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-107+2109C>T",
"hgvs_p": null,
"transcript": "ENST00000902212.1",
"protein_id": "ENSP00000572271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1680,
"cds_start": null,
"cds_end": null,
"cds_length": 5043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902212.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-107+2109C>T",
"hgvs_p": null,
"transcript": "ENST00000902214.1",
"protein_id": "ENSP00000572273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1661,
"cds_start": null,
"cds_end": null,
"cds_length": 4986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902214.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-107+2109C>T",
"hgvs_p": null,
"transcript": "ENST00000953223.1",
"protein_id": "ENSP00000623282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1337,
"cds_start": null,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953223.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-107+2223C>T",
"hgvs_p": null,
"transcript": "ENST00000514995.2",
"protein_id": "ENSP00000423647.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": null,
"cds_end": null,
"cds_length": 359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514995.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-106-5148C>T",
"hgvs_p": null,
"transcript": "XM_024454132.2",
"protein_id": "XP_024309900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1712,
"cds_start": null,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454132.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-107+1661C>T",
"hgvs_p": null,
"transcript": "XM_024454133.2",
"protein_id": "XP_024309901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1712,
"cds_start": null,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454133.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-107+2109C>T",
"hgvs_p": null,
"transcript": "XM_011532104.4",
"protein_id": "XP_011530406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": null,
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"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532104.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-107+2109C>T",
"hgvs_p": null,
"transcript": "XM_017008383.2",
"protein_id": "XP_016863872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": null,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008383.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "c.-107+2109C>T",
"hgvs_p": null,
"transcript": "XM_017008384.2",
"protein_id": "XP_016863873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1015,
"cds_start": null,
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"cds_length": 3048,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008384.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "n.-107+2109C>T",
"hgvs_p": null,
"transcript": "ENST00000679510.1",
"protein_id": "ENSP00000506501.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000679510.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "n.186+2109C>T",
"hgvs_p": null,
"transcript": "ENST00000679744.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
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"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": "retained_intron",
"feature": "ENST00000679744.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "n.72+2223C>T",
"hgvs_p": null,
"transcript": "ENST00000680998.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000680998.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"hgvs_c": "n.106+2109C>T",
"hgvs_p": null,
"transcript": "ENST00000681832.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681832.1"
}
],
"gene_symbol": "DDX60",
"gene_hgnc_id": 25942,
"dbsnp": "rs497179",
"frequency_reference_population": 0.37398797,
"hom_count_reference_population": 11605,
"allele_count_reference_population": 56817,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.373988,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 56817,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 11605,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.154,
"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": -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": "NM_017631.6",
"gene_symbol": "DDX60",
"hgnc_id": 25942,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-107+2109C>T",
"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
}