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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: 10-60278806-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=60278806&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANK3",
"hgnc_id": 494,
"hgvs_c": "c.382A>G",
"hgvs_p": "p.Thr128Ala",
"inheritance_mode": "Unknown,AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_020987.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 3000,
"alphamissense_prediction": null,
"alphamissense_score": 0.0707,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "10",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "ANK3-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005452752113342285,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 4377,
"aa_ref": "T",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17019,
"cdna_start": 719,
"cds_end": null,
"cds_length": 13134,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_020987.5",
"gene_hgnc_id": 494,
"gene_symbol": "ANK3",
"hgvs_c": "c.382A>G",
"hgvs_p": "p.Thr128Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000280772.7",
"protein_coding": true,
"protein_id": "NP_066267.2",
"strand": false,
"transcript": "NM_020987.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 4377,
"aa_ref": "T",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 17019,
"cdna_start": 719,
"cds_end": null,
"cds_length": 13134,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000280772.7",
"gene_hgnc_id": 494,
"gene_symbol": "ANK3",
"hgvs_c": "c.382A>G",
"hgvs_p": "p.Thr128Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020987.5",
"protein_coding": true,
"protein_id": "ENSP00000280772.1",
"strand": false,
"transcript": "ENST00000280772.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "T",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7202,
"cdna_start": 535,
"cds_end": null,
"cds_length": 5586,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373827.6",
"gene_hgnc_id": 494,
"gene_symbol": "ANK3",
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Thr122Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362933.2",
"strand": false,
"transcript": "ENST00000373827.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1868,
"aa_ref": "T",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9584,
"cdna_start": 760,
"cds_end": null,
"cds_length": 5607,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001204404.2",
"gene_hgnc_id": 494,
"gene_symbol": "ANK3",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Thr111Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191333.1",
"strand": false,
"transcript": "NM_001204404.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1868,
"aa_ref": "T",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9584,
"cdna_start": 760,
"cds_end": null,
"cds_length": 5607,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000503366.6",
"gene_hgnc_id": 494,
"gene_symbol": "ANK3",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Thr111Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425236.1",
"strand": false,
"transcript": "ENST00000503366.6",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1867,
"aa_ref": "T",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9489,
"cdna_start": 719,
"cds_end": null,
"cds_length": 5604,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320874.2",
"gene_hgnc_id": 494,
"gene_symbol": "ANK3",
"hgvs_c": "c.382A>G",
"hgvs_p": "p.Thr128Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307803.1",
"strand": false,
"transcript": "NM_001320874.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1867,
"aa_ref": "T",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6421,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 5604,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000870520.1",
"gene_hgnc_id": 494,
"gene_symbol": "ANK3",
"hgvs_c": "c.382A>G",
"hgvs_p": "p.Thr128Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540579.1",
"strand": false,
"transcript": "ENST00000870520.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "T",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9343,
"cdna_start": 573,
"cds_end": null,
"cds_length": 5586,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001204403.2",
"gene_hgnc_id": 494,
"gene_symbol": "ANK3",
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Thr122Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191332.1",
"strand": false,
"transcript": "NM_001204403.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1792,
"aa_ref": "T",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6373,
"cdna_start": 648,
"cds_end": null,
"cds_length": 5379,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000467420.7",
"gene_hgnc_id": 494,
"gene_symbol": "ANK3",
"hgvs_c": "c.382A>G",
"hgvs_p": "p.Thr128Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423968.2",
"strand": false,
"transcript": "ENST00000467420.7",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 925,
"aa_ref": "T",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2945,
"cdna_start": 467,
"cds_end": null,
"cds_length": 2778,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000850961.1",
"gene_hgnc_id": 494,
"gene_symbol": "ANK3",
"hgvs_c": "c.382A>G",
"hgvs_p": "p.Thr128Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521045.1",
"strand": false,
"transcript": "ENST00000850961.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 272,
"aa_ref": "T",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 947,
"cdna_start": 432,
"cds_end": null,
"cds_length": 819,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000503925.1",
"gene_hgnc_id": 494,
"gene_symbol": "ANK3",
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426011.1",
"strand": false,
"transcript": "ENST00000503925.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5071,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000622427.4",
"gene_hgnc_id": 494,
"gene_symbol": "ANK3",
"hgvs_c": "n.331A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483244.1",
"strand": false,
"transcript": "ENST00000622427.4",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs114937210",
"effect": "missense_variant",
"frequency_reference_population": 0.0018588052,
"gene_hgnc_id": 494,
"gene_symbol": "ANK3",
"gnomad_exomes_ac": 1461,
"gnomad_exomes_af": 0.000999538,
"gnomad_exomes_homalt": 28,
"gnomad_genomes_ac": 1539,
"gnomad_genomes_af": 0.0101074,
"gnomad_genomes_homalt": 43,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 71,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|not provided|ANK3-related disorder",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.261,
"pos": 60278806,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.126,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020987.5"
}
]
}