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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: 4-127898434-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=127898434&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 127898434,
"ref": "C",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000270861.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2811-5C>G",
"hgvs_p": null,
"transcript": "NM_014264.5",
"protein_id": "NP_055079.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 970,
"cds_start": -4,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": "ENST00000270861.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2811-5C>G",
"hgvs_p": null,
"transcript": "ENST00000270861.10",
"protein_id": "ENSP00000270861.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 970,
"cds_start": -4,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": "NM_014264.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2814-5C>G",
"hgvs_p": null,
"transcript": "NM_001441357.1",
"protein_id": "NP_001428286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 971,
"cds_start": -4,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2715-5C>G",
"hgvs_p": null,
"transcript": "NM_001190799.2",
"protein_id": "NP_001177728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": -4,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2715-5C>G",
"hgvs_p": null,
"transcript": "ENST00000513090.5",
"protein_id": "ENSP00000427554.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": -4,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2712-5C>G",
"hgvs_p": null,
"transcript": "NM_001441358.1",
"protein_id": "NP_001428287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": -4,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2709-5C>G",
"hgvs_p": null,
"transcript": "NM_001441359.1",
"protein_id": "NP_001428288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 936,
"cds_start": -4,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2688-5C>G",
"hgvs_p": null,
"transcript": "NM_001190801.2",
"protein_id": "NP_001177730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": -4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2688-5C>G",
"hgvs_p": null,
"transcript": "ENST00000514379.5",
"protein_id": "ENSP00000423582.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": -4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2670-5C>G",
"hgvs_p": null,
"transcript": "NM_001441360.1",
"protein_id": "NP_001428289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 923,
"cds_start": -4,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2628-5C>G",
"hgvs_p": null,
"transcript": "ENST00000507249.5",
"protein_id": "ENSP00000423412.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 909,
"cds_start": -4,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2613-5C>G",
"hgvs_p": null,
"transcript": "NM_001441361.1",
"protein_id": "NP_001428290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 904,
"cds_start": -4,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2592-5C>G",
"hgvs_p": null,
"transcript": "NM_001441362.1",
"protein_id": "NP_001428291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 897,
"cds_start": -4,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2586-5C>G",
"hgvs_p": null,
"transcript": "NM_001441366.1",
"protein_id": "NP_001428295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
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"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2577-5C>G",
"hgvs_p": null,
"transcript": "ENST00000515069.5",
"protein_id": "ENSP00000421774.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2568-5C>G",
"hgvs_p": null,
"transcript": "NM_001441367.1",
"protein_id": "NP_001428296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": -4,
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"cds_length": 2670,
"cdna_start": null,
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"cdna_length": 3732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2541-5C>G",
"hgvs_p": null,
"transcript": "NM_001441368.1",
"protein_id": "NP_001428297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 880,
"cds_start": -4,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2490-5C>G",
"hgvs_p": null,
"transcript": "NM_001441369.1",
"protein_id": "NP_001428298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 863,
"cds_start": -4,
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"cds_length": 2592,
"cdna_start": null,
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"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2190-5C>G",
"hgvs_p": null,
"transcript": "NM_001441371.1",
"protein_id": "NP_001428300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 763,
"cds_start": -4,
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"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.549-5C>G",
"hgvs_p": null,
"transcript": "ENST00000508113.1",
"protein_id": "ENSP00000427568.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": -4,
"cds_end": null,
"cds_length": 596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 596,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "n.708-5C>G",
"hgvs_p": null,
"transcript": "ENST00000510192.1",
"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": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"dbsnp": "rs724159995",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.972000002861023,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.161,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.88,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.998056756247563,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000270861.10",
"gene_symbol": "PLK4",
"hgnc_id": 11397,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2811-5C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Microcephaly and chorioretinopathy 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Microcephaly and chorioretinopathy 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}