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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: 5-141657710-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=141657710&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 141657710,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000239440.9",
"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": 33,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3526+655A>T",
"hgvs_p": null,
"transcript": "NM_022481.6",
"protein_id": "NP_071926.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1544,
"cds_start": -4,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5258,
"mane_select": "ENST00000239440.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3526+655A>T",
"hgvs_p": null,
"transcript": "ENST00000239440.9",
"protein_id": "ENSP00000239440.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1544,
"cds_start": -4,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5258,
"mane_select": "NM_022481.6",
"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": 24,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3019+655A>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": 23,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3019+655A>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,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4928,
"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": 26,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2512+655A>T",
"hgvs_p": null,
"transcript": "ENST00000513878.5",
"protein_id": "ENSP00000421468.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1193,
"cds_start": -4,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "n.1528+655A>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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3526+655A>T",
"hgvs_p": null,
"transcript": "XM_047417505.1",
"protein_id": "XP_047273461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1544,
"cds_start": -4,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5556,
"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": 24,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3526+655A>T",
"hgvs_p": null,
"transcript": "XM_047417506.1",
"protein_id": "XP_047273462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1531,
"cds_start": -4,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5517,
"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": 24,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3466+655A>T",
"hgvs_p": null,
"transcript": "XM_005268498.3",
"protein_id": "XP_005268555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
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"cdna_length": 5496,
"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": 24,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3466+655A>T",
"hgvs_p": null,
"transcript": "XM_047417507.1",
"protein_id": "XP_047273463.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1511,
"cds_start": -4,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
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"cdna_length": 5457,
"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": 23,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3313+655A>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,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 25,
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"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3292+655A>T",
"hgvs_p": null,
"transcript": "XM_005268499.2",
"protein_id": "XP_005268556.1",
"transcript_support_level": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3313+655A>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,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3292+655A>T",
"hgvs_p": null,
"transcript": "XM_047417510.1",
"protein_id": "XP_047273466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3232+655A>T",
"hgvs_p": null,
"transcript": "XM_047417511.1",
"protein_id": "XP_047273467.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1446,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3232+655A>T",
"hgvs_p": null,
"transcript": "XM_047417512.1",
"protein_id": "XP_047273468.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3079+655A>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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"mane_select": null,
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"biotype": null,
"feature": 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": 24,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.3079+655A>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,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": 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": 23,
"intron_rank_end": null,
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"hgvs_c": "c.2941+655A>T",
"hgvs_p": null,
"transcript": "XM_011537677.3",
"protein_id": "XP_011535979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1349,
"cds_start": -4,
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"cds_length": 4050,
"cdna_start": null,
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"cdna_length": 4690,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ARAP3",
"gene_hgnc_id": 24097,
"dbsnp": "rs6895094",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.131,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000239440.9",
"gene_symbol": "ARAP3",
"hgnc_id": 24097,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3526+655A>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
}