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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: 1-244862498-A-ATCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=244862498&ref=A&alt=ATCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 244862498,
"ref": "A",
"alt": "ATCT",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000640218.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "ED",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.837_839dupAGA",
"hgvs_p": "p.Glu279dup",
"transcript": "NM_031844.3",
"protein_id": "NP_114032.2",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 825,
"cds_start": 839,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 6867,
"mane_select": "ENST00000640218.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "ED",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.837_839dupAGA",
"hgvs_p": "p.Glu279dup",
"transcript": "ENST00000640218.2",
"protein_id": "ENSP00000491215.1",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 825,
"cds_start": 839,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 6867,
"mane_select": "NM_031844.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "ED",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.780_782dupAGA",
"hgvs_p": "p.Glu260dup",
"transcript": "ENST00000444376.7",
"protein_id": "ENSP00000393151.2",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 806,
"cds_start": 782,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 6827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "ED",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.780_782dupAGA",
"hgvs_p": "p.Glu260dup",
"transcript": "NM_004501.3",
"protein_id": "NP_004492.2",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 806,
"cds_start": 782,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 6789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "ED",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.564_566dupAGA",
"hgvs_p": "p.Glu188dup",
"transcript": "ENST00000638475.1",
"protein_id": "ENSP00000491305.1",
"transcript_support_level": 5,
"aa_start": 189,
"aa_end": null,
"aa_length": 728,
"cds_start": 566,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "ED",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.456_458dupAGA",
"hgvs_p": "p.Glu152dup",
"transcript": "ENST00000704074.1",
"protein_id": "ENSP00000515674.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 664,
"cds_start": 458,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "ED",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.168_170dupAGA",
"hgvs_p": "p.Glu56dup",
"transcript": "ENST00000440865.2",
"protein_id": "ENSP00000410728.2",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 602,
"cds_start": 170,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.450_452dupAGA",
"hgvs_p": null,
"transcript": "ENST00000366525.8",
"protein_id": null,
"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": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.965_967dupAGA",
"hgvs_p": null,
"transcript": "ENST00000476241.2",
"protein_id": null,
"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": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.1068_1070dupAGA",
"hgvs_p": null,
"transcript": "ENST00000638952.1",
"protein_id": null,
"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": 5678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.183_185dupAGA",
"hgvs_p": null,
"transcript": "ENST00000640056.1",
"protein_id": "ENSP00000492620.1",
"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": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.780_782dupAGA",
"hgvs_p": null,
"transcript": "ENST00000640306.1",
"protein_id": "ENSP00000491685.1",
"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": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.368_370dupAGA",
"hgvs_p": null,
"transcript": "ENST00000640440.1",
"protein_id": "ENSP00000491263.1",
"transcript_support_level": 3,
"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": 871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.1004_1006dupAGA",
"hgvs_p": null,
"transcript": "ENST00000649899.1",
"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": 13084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.634+1173_634+1175dupAGA",
"hgvs_p": null,
"transcript": "ENST00000283179.14",
"protein_id": "ENSP00000283179.10",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 744,
"cds_start": -4,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.-1978_-1976dupAGA",
"hgvs_p": null,
"transcript": "ENST00000639628.2",
"protein_id": "ENSP00000491340.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.-1978_-1976dupAGA",
"hgvs_p": null,
"transcript": "ENST00000640001.1",
"protein_id": "ENSP00000491294.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 546,
"cds_start": -4,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.-1978_-1976dupAGA",
"hgvs_p": null,
"transcript": "ENST00000638301.1",
"protein_id": "ENSP00000491807.1",
"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": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.-120_-118dupAGA",
"hgvs_p": null,
"transcript": "ENST00000639667.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.-1978_-1976dupAGA",
"hgvs_p": null,
"transcript": "ENST00000639880.1",
"protein_id": "ENSP00000490988.1",
"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": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"dbsnp": "rs747301226",
"frequency_reference_population": 6.8411526e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84115e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.002,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP3",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4_Supporting",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000640218.2",
"gene_symbol": "HNRNPU",
"hgnc_id": 5048,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.837_839dupAGA",
"hgvs_p": "p.Glu279dup"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}