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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: 5-141662250-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=141662250&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 141662250,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000239440.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2806C>T",
"hgvs_p": "p.Arg936Trp",
"transcript": "NM_022481.6",
"protein_id": "NP_071926.4",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1544,
"cds_start": 2806,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 2881,
"cdna_end": null,
"cdna_length": 5258,
"mane_select": "ENST00000239440.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2806C>T",
"hgvs_p": "p.Arg936Trp",
"transcript": "ENST00000239440.9",
"protein_id": "ENSP00000239440.4",
"transcript_support_level": 1,
"aa_start": 936,
"aa_end": null,
"aa_length": 1544,
"cds_start": 2806,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 2881,
"cdna_end": null,
"cdna_length": 5258,
"mane_select": "NM_022481.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.1792C>T",
"hgvs_p": "p.Arg598Trp",
"transcript": "ENST00000513878.5",
"protein_id": "ENSP00000421468.1",
"transcript_support_level": 2,
"aa_start": 598,
"aa_end": null,
"aa_length": 1193,
"cds_start": 1792,
"cds_end": null,
"cds_length": 3582,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2806C>T",
"hgvs_p": "p.Arg936Trp",
"transcript": "XM_047417505.1",
"protein_id": "XP_047273461.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1544,
"cds_start": 2806,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 3179,
"cdna_end": null,
"cdna_length": 5556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2806C>T",
"hgvs_p": "p.Arg936Trp",
"transcript": "XM_047417506.1",
"protein_id": "XP_047273462.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1531,
"cds_start": 2806,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 3179,
"cdna_end": null,
"cdna_length": 5517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2806C>T",
"hgvs_p": "p.Arg936Trp",
"transcript": "XM_005268498.3",
"protein_id": "XP_005268555.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1524,
"cds_start": 2806,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 3179,
"cdna_end": null,
"cdna_length": 5496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2806C>T",
"hgvs_p": "p.Arg936Trp",
"transcript": "XM_047417507.1",
"protein_id": "XP_047273463.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1511,
"cds_start": 2806,
"cds_end": null,
"cds_length": 4536,
"cdna_start": 3179,
"cdna_end": null,
"cdna_length": 5457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Arg858Trp",
"transcript": "XM_005268499.2",
"protein_id": "XP_005268556.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1466,
"cds_start": 2572,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 2849,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Arg858Trp",
"transcript": "XM_047417510.1",
"protein_id": "XP_047273466.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1453,
"cds_start": 2572,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 2849,
"cdna_end": null,
"cdna_length": 5187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Arg858Trp",
"transcript": "XM_047417511.1",
"protein_id": "XP_047273467.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1446,
"cds_start": 2572,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 2849,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Arg858Trp",
"transcript": "XM_047417512.1",
"protein_id": "XP_047273468.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1433,
"cds_start": 2572,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 2849,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2221C>T",
"hgvs_p": "p.Arg741Trp",
"transcript": "XM_011537677.3",
"protein_id": "XP_011535979.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 1349,
"cds_start": 2221,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 2313,
"cdna_end": null,
"cdna_length": 4690,
"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": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "n.555C>T",
"hgvs_p": null,
"transcript": "ENST00000512390.1",
"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": 3179,
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "n.3064C>T",
"hgvs_p": null,
"transcript": "XR_007058625.1",
"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": 3162,
"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": 32,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2507-461C>T",
"hgvs_p": null,
"transcript": "ENST00000508305.5",
"protein_id": "ENSP00000421826.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1375,
"cds_start": -4,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4927,
"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": 31,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2507-461C>T",
"hgvs_p": null,
"transcript": "ENST00000626478.2",
"protein_id": "ENSP00000486980.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1375,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2801-461C>T",
"hgvs_p": null,
"transcript": "XM_047417508.1",
"protein_id": "XP_047273464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1473,
"cds_start": -4,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5343,
"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": 30,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2801-461C>T",
"hgvs_p": null,
"transcript": "XM_047417509.1",
"protein_id": "XP_047273465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1460,
"cds_start": -4,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
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"cdna_length": 5304,
"mane_select": null,
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"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": 32,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2567-461C>T",
"hgvs_p": null,
"transcript": "XM_047417513.1",
"protein_id": "XP_047273469.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1395,
"cds_start": -4,
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"cdna_length": 5013,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2567-461C>T",
"hgvs_p": null,
"transcript": "XM_047417514.1",
"protein_id": "XP_047273470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1382,
"cds_start": -4,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
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"cdna_length": 4974,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "n.3059-461C>T",
"hgvs_p": null,
"transcript": "XR_007058626.1",
"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": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"dbsnp": "rs145752053",
"frequency_reference_population": 0.0000061966853,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000342086,
"gnomad_genomes_af": 0.0000328632,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4854222238063812,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.4195,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.176,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000239440.9",
"gene_symbol": "ARAP3",
"hgnc_id": 24097,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2806C>T",
"hgvs_p": "p.Arg936Trp"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}