← Back to variant description
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: 10-60072347-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=60072347&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 60072347,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000280772.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.8534G>A",
"hgvs_p": "p.Gly2845Glu",
"transcript": "NM_020987.5",
"protein_id": "NP_066267.2",
"transcript_support_level": null,
"aa_start": 2845,
"aa_end": null,
"aa_length": 4377,
"cds_start": 8534,
"cds_end": null,
"cds_length": 13134,
"cdna_start": 8871,
"cdna_end": null,
"cdna_length": 17019,
"mane_select": "ENST00000280772.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.8534G>A",
"hgvs_p": "p.Gly2845Glu",
"transcript": "ENST00000280772.7",
"protein_id": "ENSP00000280772.1",
"transcript_support_level": 1,
"aa_start": 2845,
"aa_end": null,
"aa_length": 4377,
"cds_start": 8534,
"cds_end": null,
"cds_length": 13134,
"cdna_start": 8871,
"cdna_end": null,
"cdna_length": 17019,
"mane_select": "NM_020987.5",
"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": 44,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.4388-4338G>A",
"hgvs_p": null,
"transcript": "ENST00000373827.6",
"protein_id": "ENSP00000362933.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1861,
"cds_start": -4,
"cds_end": null,
"cds_length": 5586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7202,
"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": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.1808-4338G>A",
"hgvs_p": null,
"transcript": "ENST00000355288.6",
"protein_id": "ENSP00000347436.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": -4,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "n.221G>A",
"hgvs_p": null,
"transcript": "ENST00000621739.1",
"protein_id": "ENSP00000478037.1",
"transcript_support_level": 5,
"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": 3166,
"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": 44,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.4409-4338G>A",
"hgvs_p": null,
"transcript": "NM_001204404.2",
"protein_id": "NP_001191333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1868,
"cds_start": -4,
"cds_end": null,
"cds_length": 5607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9584,
"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": 44,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.4409-4338G>A",
"hgvs_p": null,
"transcript": "ENST00000503366.6",
"protein_id": "ENSP00000425236.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1868,
"cds_start": -4,
"cds_end": null,
"cds_length": 5607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9584,
"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": 43,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.4406-4338G>A",
"hgvs_p": null,
"transcript": "NM_001320874.2",
"protein_id": "NP_001307803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1867,
"cds_start": -4,
"cds_end": null,
"cds_length": 5604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9489,
"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": 44,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.4388-4338G>A",
"hgvs_p": null,
"transcript": "NM_001204403.2",
"protein_id": "NP_001191332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1861,
"cds_start": -4,
"cds_end": null,
"cds_length": 5586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9343,
"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": 45,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.4490-4338G>A",
"hgvs_p": null,
"transcript": "ENST00000467420.7",
"protein_id": "ENSP00000423968.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1792,
"cds_start": -4,
"cds_end": null,
"cds_length": 5379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6373,
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.4039+1525G>A",
"hgvs_p": null,
"transcript": "ENST00000610321.4",
"protein_id": "ENSP00000477827.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1642,
"cds_start": -4,
"cds_end": null,
"cds_length": 4929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4930,
"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": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.1808-4338G>A",
"hgvs_p": null,
"transcript": "NM_001149.4",
"protein_id": "NP_001140.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": -4,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6927,
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.1223-4338G>A",
"hgvs_p": null,
"transcript": "ENST00000616444.4",
"protein_id": "ENSP00000482401.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 972,
"cds_start": -4,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2939,
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.182-4338G>A",
"hgvs_p": null,
"transcript": "ENST00000373820.5",
"protein_id": "ENSP00000362926.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": -4,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2358,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.83-4338G>A",
"hgvs_p": null,
"transcript": "ENST00000511043.5",
"protein_id": "ENSP00000426258.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": -4,
"cds_end": null,
"cds_length": 560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000232682",
"gene_hgnc_id": null,
"hgvs_c": "n.260-11122C>T",
"hgvs_p": null,
"transcript": "ENST00000830353.1",
"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": 332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308015",
"gene_hgnc_id": null,
"hgvs_c": "n.122-3412C>T",
"hgvs_p": null,
"transcript": "ENST00000830462.1",
"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": 1383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"dbsnp": "rs139022925",
"frequency_reference_population": 0.0022443698,
"hom_count_reference_population": 6,
"allele_count_reference_population": 3622,
"gnomad_exomes_af": 0.00233795,
"gnomad_genomes_af": 0.00134619,
"gnomad_exomes_ac": 3417,
"gnomad_genomes_ac": 205,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009991496801376343,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.1213,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.057,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000280772.7",
"gene_symbol": "ANK3",
"hgnc_id": 494,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.8534G>A",
"hgvs_p": "p.Gly2845Glu"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000830353.1",
"gene_symbol": "ENSG00000232682",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.260-11122C>T",
"hgvs_p": null
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000830462.1",
"gene_symbol": "ENSG00000308015",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.122-3412C>T",
"hgvs_p": null
}
],
"clinvar_disease": "ANK3-related disorder,Intellectual disability-hypotonia-spasticity-sleep disorder syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1 B:1",
"phenotype_combined": "not specified|Intellectual disability-hypotonia-spasticity-sleep disorder syndrome|not provided|ANK3-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}