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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: 15-23018631-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=23018631&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 23018631,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000615383.5",
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1487+588A>C",
"hgvs_p": null,
"transcript": "NM_052903.6",
"protein_id": "NP_443135.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": -4,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "ENST00000615383.5",
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1487+588A>C",
"hgvs_p": null,
"transcript": "ENST00000615383.5",
"protein_id": "ENSP00000480316.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": -4,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "NM_052903.6",
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1490+588A>C",
"hgvs_p": null,
"transcript": "NM_001354372.2",
"protein_id": "NP_001341301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1061,
"cds_start": -4,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3644,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1487+588A>C",
"hgvs_p": null,
"transcript": "NM_001354373.2",
"protein_id": "NP_001341302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1060,
"cds_start": -4,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3641,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1445+588A>C",
"hgvs_p": null,
"transcript": "NM_001354374.2",
"protein_id": "NP_001341303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1046,
"cds_start": -4,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3599,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1487+588A>C",
"hgvs_p": null,
"transcript": "NM_001354375.2",
"protein_id": "NP_001341304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1033,
"cds_start": -4,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3760,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1487+588A>C",
"hgvs_p": null,
"transcript": "NM_001354376.2",
"protein_id": "NP_001341305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1030,
"cds_start": -4,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3751,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1490+588A>C",
"hgvs_p": null,
"transcript": "NM_001354377.2",
"protein_id": "NP_001341306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1025,
"cds_start": -4,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3747,
"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": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1490+588A>C",
"hgvs_p": null,
"transcript": "NM_001354378.2",
"protein_id": "NP_001341307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1025,
"cds_start": -4,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3342,
"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": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1487+588A>C",
"hgvs_p": null,
"transcript": "NM_001102610.2",
"protein_id": "NP_001096080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": -4,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3339,
"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": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1487+588A>C",
"hgvs_p": null,
"transcript": "ENST00000620435.4",
"protein_id": "ENSP00000481853.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": -4,
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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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "n.1487+588A>C",
"hgvs_p": null,
"transcript": "ENST00000614508.4",
"protein_id": "ENSP00000484566.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "n.1669+588A>C",
"hgvs_p": null,
"transcript": "ENST00000615455.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "n.1513+588A>C",
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"transcript": "NR_148875.2",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 12,
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"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1490+588A>C",
"hgvs_p": null,
"transcript": "XM_011543868.3",
"protein_id": "XP_011542170.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 12,
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"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1490+588A>C",
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"transcript": "XM_011543870.3",
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},
{
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1049+588A>C",
"hgvs_p": null,
"transcript": "XM_017021894.2",
"protein_id": "XP_016877383.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 12,
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"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1049+588A>C",
"hgvs_p": null,
"transcript": "XM_047432130.1",
"protein_id": "XP_047288086.1",
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.1046+588A>C",
"hgvs_p": null,
"transcript": "XM_017021895.2",
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},
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],
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"gene_symbol": "TUBGCP5",
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"transcript": "XM_047432131.1",
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},
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],
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"intron_rank": 4,
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"gene_symbol": "TUBGCP5",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
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"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.248+588A>C",
"hgvs_p": null,
"transcript": "XM_017021901.2",
"protein_id": "XP_016877390.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 647,
"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "n.1516+588A>C",
"hgvs_p": null,
"transcript": "XR_007064420.1",
"protein_id": null,
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"cdna_start": null,
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"cdna_length": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"dbsnp": "rs748979",
"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": -0.6800000071525574,
"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": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.207,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000615383.5",
"gene_symbol": "TUBGCP5",
"hgnc_id": 18600,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1487+588A>C",
"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
}