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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: 5-160427754-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=160427754&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PTTG1",
"hgnc_id": 9690,
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ala137Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_004219.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 69,
"alphamissense_prediction": null,
"alphamissense_score": 0.2273,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5315971970558167,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 715,
"cdna_start": 458,
"cds_end": null,
"cds_length": 609,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004219.4",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ala137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000352433.10",
"protein_coding": true,
"protein_id": "NP_004210.1",
"strand": true,
"transcript": "NM_004219.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 715,
"cdna_start": 458,
"cds_end": null,
"cds_length": 609,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000352433.10",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ala137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004219.4",
"protein_coding": true,
"protein_id": "ENSP00000344936.5",
"strand": true,
"transcript": "ENST00000352433.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1070,
"cdna_start": 813,
"cds_end": null,
"cds_length": 609,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000393964.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ala137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377536.1",
"strand": true,
"transcript": "ENST00000393964.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 217,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 795,
"cdna_start": 529,
"cds_end": null,
"cds_length": 654,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922255.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ala152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592314.1",
"strand": true,
"transcript": "ENST00000922255.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1075,
"cdna_start": 813,
"cds_end": null,
"cds_length": 609,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001282382.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ala137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269311.1",
"strand": true,
"transcript": "NM_001282382.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 929,
"cdna_start": 667,
"cds_end": null,
"cds_length": 609,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282383.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ala137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269312.1",
"strand": true,
"transcript": "NM_001282383.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 895,
"cdna_start": 673,
"cds_end": null,
"cds_length": 609,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000520452.5",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ala137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430642.1",
"strand": true,
"transcript": "ENST00000520452.5",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 746,
"cdna_start": 487,
"cds_end": null,
"cds_length": 609,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922254.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ala137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592313.1",
"strand": true,
"transcript": "ENST00000922254.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 727,
"cdna_start": 470,
"cds_end": null,
"cds_length": 609,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922260.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ala137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592319.1",
"strand": true,
"transcript": "ENST00000922260.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 730,
"cdna_start": 472,
"cds_end": null,
"cds_length": 609,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922261.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ala137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592320.1",
"strand": true,
"transcript": "ENST00000922261.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 978,
"cdna_start": 720,
"cds_end": null,
"cds_length": 609,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922263.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ala137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592322.1",
"strand": true,
"transcript": "ENST00000922263.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1002,
"cdna_start": 745,
"cds_end": null,
"cds_length": 609,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922264.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ala137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592323.1",
"strand": true,
"transcript": "ENST00000922264.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 749,
"cdna_start": 487,
"cds_end": null,
"cds_length": 600,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922252.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ala134Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592311.1",
"strand": true,
"transcript": "ENST00000922252.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 730,
"cdna_start": 472,
"cds_end": null,
"cds_length": 600,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922257.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ala134Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592316.1",
"strand": true,
"transcript": "ENST00000922257.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 197,
"aa_ref": "A",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 727,
"cdna_start": 469,
"cds_end": null,
"cds_length": 594,
"cds_start": 395,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922256.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.395C>T",
"hgvs_p": "p.Ala132Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592315.1",
"strand": true,
"transcript": "ENST00000922256.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 162,
"aa_ref": "A",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 592,
"cdna_start": 335,
"cds_end": null,
"cds_length": 489,
"cds_start": 290,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922258.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Ala97Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592317.1",
"strand": true,
"transcript": "ENST00000922258.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 109,
"aa_ref": "A",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 477,
"cdna_start": 217,
"cds_end": null,
"cds_length": 330,
"cds_start": 131,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922253.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Ala44Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592312.1",
"strand": true,
"transcript": "ENST00000922253.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 149,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 941,
"cdna_start": null,
"cds_end": null,
"cds_length": 450,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922262.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.371-848C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592321.1",
"strand": true,
"transcript": "ENST00000922262.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 56,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 273,
"cdna_start": null,
"cds_end": null,
"cds_length": 171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922259.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "c.92-848C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592318.1",
"strand": true,
"transcript": "ENST00000922259.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000519287.1",
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"hgvs_c": "n.413C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000519287.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs781094535",
"effect": "missense_variant",
"frequency_reference_population": 0.000042751035,
"gene_hgnc_id": 9690,
"gene_symbol": "PTTG1",
"gnomad_exomes_ac": 59,
"gnomad_exomes_af": 0.0000403606,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 10,
"gnomad_genomes_af": 0.0000657142,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.132,
"pos": 160427754,
"ref": "C",
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"splice_prediction_selected": "Benign",
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"transcript": "NM_004219.4"
}
]
}