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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: 1-224398524-TACATTTAACA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=224398524&ref=TACATTTAACA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 224398524,
"ref": "TACATTTAACA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000414423.9",
"consequences": [
{
"aa_ref": "LLNV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "c.1925_1934delTGTTAAATGT",
"hgvs_p": "p.Leu642fs",
"transcript": "NM_001379403.1",
"protein_id": "NP_001366332.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 761,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 7367,
"mane_select": "ENST00000414423.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLNV",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "c.1925_1934delTGTTAAATGT",
"hgvs_p": "p.Leu642fs",
"transcript": "ENST00000414423.9",
"protein_id": "ENSP00000408108.4",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 761,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 7367,
"mane_select": "NM_001379403.1",
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "n.3255_3264delTGTTAAATGT",
"hgvs_p": null,
"transcript": "ENST00000443112.7",
"protein_id": null,
"transcript_support_level": 1,
"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": 4463,
"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": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "n.*1180_*1189delTGTTAAATGT",
"hgvs_p": null,
"transcript": "ENST00000486652.5",
"protein_id": "ENSP00000422758.1",
"transcript_support_level": 1,
"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": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "n.*1180_*1189delTGTTAAATGT",
"hgvs_p": null,
"transcript": "ENST00000486652.5",
"protein_id": "ENSP00000422758.1",
"transcript_support_level": 1,
"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": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLNV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "c.1925_1934delTGTTAAATGT",
"hgvs_p": "p.Leu642fs",
"transcript": "ENST00000678555.1",
"protein_id": "ENSP00000504302.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 699,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLNV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "c.1625_1634delTGTTAAATGT",
"hgvs_p": "p.Leu542fs",
"transcript": "NM_025160.7",
"protein_id": "NP_079436.4",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 661,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 7367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLNV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "c.1625_1634delTGTTAAATGT",
"hgvs_p": "p.Leu542fs",
"transcript": "ENST00000678917.1",
"protein_id": "ENSP00000504428.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 661,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 7367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLNV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "c.1577_1586delTGTTAAATGT",
"hgvs_p": "p.Leu526fs",
"transcript": "NM_001115113.3",
"protein_id": "NP_001108585.2",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 645,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 7319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLNV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "c.1466_1475delTGTTAAATGT",
"hgvs_p": "p.Leu489fs",
"transcript": "ENST00000651911.2",
"protein_id": "ENSP00000498603.2",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 608,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLNV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "c.1388_1397delTGTTAAATGT",
"hgvs_p": "p.Leu463fs",
"transcript": "ENST00000678879.1",
"protein_id": "ENSP00000503936.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 582,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 6402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLNV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "c.524_533delTGTTAAATGT",
"hgvs_p": "p.Leu175fs",
"transcript": "ENST00000480676.2",
"protein_id": "ENSP00000424784.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 294,
"cds_start": 524,
"cds_end": null,
"cds_length": 885,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 1725,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "n.276_285delTGTTAAATGT",
"hgvs_p": null,
"transcript": "ENST00000479727.1",
"protein_id": null,
"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,
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"cdna_length": 795,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "n.*1087_*1096delTGTTAAATGT",
"hgvs_p": null,
"transcript": "ENST00000704632.1",
"protein_id": "ENSP00000515968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "n.*4_*13delTGTTAAATGT",
"hgvs_p": null,
"transcript": "ENST00000704640.1",
"protein_id": "ENSP00000515971.1",
"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,
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"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "n.*1087_*1096delTGTTAAATGT",
"hgvs_p": null,
"transcript": "ENST00000704632.1",
"protein_id": "ENSP00000515968.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"hgvs_c": "n.*4_*13delTGTTAAATGT",
"hgvs_p": null,
"transcript": "ENST00000704640.1",
"protein_id": "ENSP00000515971.1",
"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": 2167,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR4742",
"gene_hgnc_id": 41565,
"hgvs_c": "n.-223_-214delTGTTAAATGT",
"hgvs_p": null,
"transcript": "ENST00000581069.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR4742",
"gene_hgnc_id": 41565,
"hgvs_c": "n.-223_-214delTGTTAAATGT",
"hgvs_p": null,
"transcript": "NR_039896.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR4742",
"gene_hgnc_id": 41565,
"hgvs_c": "n.-223_-214delTGTTAAATGT",
"hgvs_p": null,
"transcript": "unassigned_transcript_294",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 23,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR26",
"gene_hgnc_id": 21208,
"dbsnp": "rs1553353206",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": 9.246,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000414423.9",
"gene_symbol": "WDR26",
"hgnc_id": 21208,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1925_1934delTGTTAAATGT",
"hgvs_p": "p.Leu642fs"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_039896.1",
"gene_symbol": "MIR4742",
"hgnc_id": 41565,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-223_-214delTGTTAAATGT",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}