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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: 7-40063036-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=40063036&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 40063036,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000181839.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "c.2716G>A",
"hgvs_p": "p.Glu906Lys",
"transcript": "NM_003718.5",
"protein_id": "NP_003709.3",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1512,
"cds_start": 2716,
"cds_end": null,
"cds_length": 4539,
"cdna_start": 3102,
"cdna_end": null,
"cdna_length": 9525,
"mane_select": "ENST00000181839.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "c.2716G>A",
"hgvs_p": "p.Glu906Lys",
"transcript": "ENST00000181839.10",
"protein_id": "ENSP00000181839.4",
"transcript_support_level": 1,
"aa_start": 906,
"aa_end": null,
"aa_length": 1512,
"cds_start": 2716,
"cds_end": null,
"cds_length": 4539,
"cdna_start": 3102,
"cdna_end": null,
"cdna_length": 9525,
"mane_select": "NM_003718.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "c.2716G>A",
"hgvs_p": "p.Glu906Lys",
"transcript": "ENST00000340829.10",
"protein_id": "ENSP00000340557.5",
"transcript_support_level": 1,
"aa_start": 906,
"aa_end": null,
"aa_length": 1452,
"cds_start": 2716,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 3237,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Glu423Lys",
"transcript": "ENST00000484589.2",
"protein_id": "ENSP00000494206.1",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 455,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "c.2716G>A",
"hgvs_p": "p.Glu906Lys",
"transcript": "NM_031267.3",
"protein_id": "NP_112557.2",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1452,
"cds_start": 2716,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 6795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "c.2056G>A",
"hgvs_p": "p.Glu686Lys",
"transcript": "ENST00000646039.1",
"protein_id": "ENSP00000494168.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 1308,
"cds_start": 2056,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 4466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "c.1606G>A",
"hgvs_p": "p.Glu536Lys",
"transcript": "ENST00000643859.1",
"protein_id": "ENSP00000496440.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1098,
"cds_start": 1606,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Glu344Lys",
"transcript": "ENST00000643915.1",
"protein_id": "ENSP00000496187.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 915,
"cds_start": 1030,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Glu216Lys",
"transcript": "ENST00000645470.1",
"protein_id": "ENSP00000495036.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 239,
"cds_start": 646,
"cds_end": null,
"cds_length": 720,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Glu90Lys",
"transcript": "ENST00000642592.1",
"protein_id": "ENSP00000494207.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 142,
"cds_start": 268,
"cds_end": null,
"cds_length": 429,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "c.2806G>A",
"hgvs_p": "p.Glu936Lys",
"transcript": "XM_017012750.3",
"protein_id": "XP_016868239.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1542,
"cds_start": 2806,
"cds_end": null,
"cds_length": 4629,
"cdna_start": 3192,
"cdna_end": null,
"cdna_length": 9615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "c.2806G>A",
"hgvs_p": "p.Glu936Lys",
"transcript": "XM_017012751.3",
"protein_id": "XP_016868240.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1482,
"cds_start": 2806,
"cds_end": null,
"cds_length": 4449,
"cdna_start": 3192,
"cdna_end": null,
"cdna_length": 9435,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "n.181G>A",
"hgvs_p": null,
"transcript": "ENST00000478563.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 904,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "n.2122G>A",
"hgvs_p": null,
"transcript": "ENST00000644221.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4511,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "n.431G>A",
"hgvs_p": null,
"transcript": "ENST00000644561.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2576,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "n.452G>A",
"hgvs_p": null,
"transcript": "ENST00000700485.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2672,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "n.490G>A",
"hgvs_p": null,
"transcript": "ENST00000700486.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2901,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"hgvs_c": "n.458G>A",
"hgvs_p": null,
"transcript": "ENST00000700487.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDK13",
"gene_hgnc_id": 1733,
"dbsnp": "rs1554335512",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9640615582466125,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.714,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.321,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000181839.10",
"gene_symbol": "CDK13",
"hgnc_id": 1733,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2716G>A",
"hgvs_p": "p.Glu906Lys"
}
],
"clinvar_disease": "Inborn genetic diseases,Syndromic intellectual disability,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Inborn genetic diseases|not provided|Syndromic intellectual disability",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}