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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: 4-127890181-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=127890181&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 127890181,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000270861.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1775C>G",
"hgvs_p": "p.Ser592Cys",
"transcript": "NM_014264.5",
"protein_id": "NP_055079.3",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 970,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": "ENST00000270861.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1775C>G",
"hgvs_p": "p.Ser592Cys",
"transcript": "ENST00000270861.10",
"protein_id": "ENSP00000270861.5",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 970,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": "NM_014264.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1778C>G",
"hgvs_p": "p.Ser593Cys",
"transcript": "NM_001441357.1",
"protein_id": "NP_001428286.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 971,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1679C>G",
"hgvs_p": "p.Ser560Cys",
"transcript": "NM_001190799.2",
"protein_id": "NP_001177728.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 938,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 3742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1679C>G",
"hgvs_p": "p.Ser560Cys",
"transcript": "ENST00000513090.5",
"protein_id": "ENSP00000427554.1",
"transcript_support_level": 2,
"aa_start": 560,
"aa_end": null,
"aa_length": 938,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 3123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1676C>G",
"hgvs_p": "p.Ser559Cys",
"transcript": "NM_001441358.1",
"protein_id": "NP_001428287.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 937,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 1717,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1673C>G",
"hgvs_p": "p.Ser558Cys",
"transcript": "NM_001441359.1",
"protein_id": "NP_001428288.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 936,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 3736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1652C>G",
"hgvs_p": "p.Ser551Cys",
"transcript": "NM_001190801.2",
"protein_id": "NP_001177730.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 929,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1652C>G",
"hgvs_p": "p.Ser551Cys",
"transcript": "ENST00000514379.5",
"protein_id": "ENSP00000423582.1",
"transcript_support_level": 2,
"aa_start": 551,
"aa_end": null,
"aa_length": 929,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1634C>G",
"hgvs_p": "p.Ser545Cys",
"transcript": "NM_001441360.1",
"protein_id": "NP_001428289.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 923,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1673C>G",
"hgvs_p": "p.Ser558Cys",
"transcript": "ENST00000507249.5",
"protein_id": "ENSP00000423412.1",
"transcript_support_level": 5,
"aa_start": 558,
"aa_end": null,
"aa_length": 909,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 1879,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1577C>G",
"hgvs_p": "p.Ser526Cys",
"transcript": "NM_001441361.1",
"protein_id": "NP_001428290.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 904,
"cds_start": 1577,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1775C>G",
"hgvs_p": "p.Ser592Cys",
"transcript": "NM_001441362.1",
"protein_id": "NP_001428291.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 897,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1550C>G",
"hgvs_p": "p.Ser517Cys",
"transcript": "NM_001441366.1",
"protein_id": "NP_001428295.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 895,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1541C>G",
"hgvs_p": "p.Ser514Cys",
"transcript": "ENST00000515069.5",
"protein_id": "ENSP00000421774.1",
"transcript_support_level": 5,
"aa_start": 514,
"aa_end": null,
"aa_length": 892,
"cds_start": 1541,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1532C>G",
"hgvs_p": "p.Ser511Cys",
"transcript": "NM_001441367.1",
"protein_id": "NP_001428296.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 889,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 3732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1505C>G",
"hgvs_p": "p.Ser502Cys",
"transcript": "NM_001441368.1",
"protein_id": "NP_001428297.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 880,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1673C>G",
"hgvs_p": "p.Ser558Cys",
"transcript": "NM_001441369.1",
"protein_id": "NP_001428298.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 863,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1154C>G",
"hgvs_p": "p.Ser385Cys",
"transcript": "NM_001441371.1",
"protein_id": "NP_001428300.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 763,
"cds_start": 1154,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "n.479C>G",
"hgvs_p": null,
"transcript": "ENST00000510605.1",
"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,
"cdna_end": null,
"cdna_length": 637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"dbsnp": "rs141081905",
"frequency_reference_population": 6.843793e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84379e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13117390871047974,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.0956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.463,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000270861.10",
"gene_symbol": "PLK4",
"hgnc_id": 11397,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1775C>G",
"hgvs_p": "p.Ser592Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}