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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: 16-89281204-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89281204&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89281204,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000301030.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.5338G>A",
"hgvs_p": "p.Ala1780Thr",
"transcript": "NM_013275.6",
"protein_id": "NP_037407.4",
"transcript_support_level": null,
"aa_start": 1780,
"aa_end": null,
"aa_length": 2663,
"cds_start": 5338,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 5799,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": "ENST00000301030.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.5338G>A",
"hgvs_p": "p.Ala1780Thr",
"transcript": "ENST00000301030.10",
"protein_id": "ENSP00000301030.4",
"transcript_support_level": 5,
"aa_start": 1780,
"aa_end": null,
"aa_length": 2663,
"cds_start": 5338,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 5799,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": "NM_013275.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.5338G>A",
"hgvs_p": "p.Ala1780Thr",
"transcript": "ENST00000378330.7",
"protein_id": "ENSP00000367581.2",
"transcript_support_level": 1,
"aa_start": 1780,
"aa_end": null,
"aa_length": 2663,
"cds_start": 5338,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 5629,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.5338G>A",
"hgvs_p": "p.Ala1780Thr",
"transcript": "NM_001256182.2",
"protein_id": "NP_001243111.1",
"transcript_support_level": null,
"aa_start": 1780,
"aa_end": null,
"aa_length": 2663,
"cds_start": 5338,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 5870,
"cdna_end": null,
"cdna_length": 9372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.5338G>A",
"hgvs_p": "p.Ala1780Thr",
"transcript": "NM_001256183.2",
"protein_id": "NP_001243112.1",
"transcript_support_level": null,
"aa_start": 1780,
"aa_end": null,
"aa_length": 2663,
"cds_start": 5338,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 5796,
"cdna_end": null,
"cdna_length": 9298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.5338G>A",
"hgvs_p": "p.Ala1780Thr",
"transcript": "ENST00000642600.2",
"protein_id": "ENSP00000495226.1",
"transcript_support_level": null,
"aa_start": 1780,
"aa_end": null,
"aa_length": 2663,
"cds_start": 5338,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 5714,
"cdna_end": null,
"cdna_length": 9227,
"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": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "n.*5141G>A",
"hgvs_p": null,
"transcript": "ENST00000330736.10",
"protein_id": "ENSP00000330815.5",
"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": 8661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "n.*5141G>A",
"hgvs_p": null,
"transcript": "ENST00000330736.10",
"protein_id": "ENSP00000330815.5",
"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": 8661,
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.745-6013G>A",
"hgvs_p": null,
"transcript": "ENST00000644285.1",
"protein_id": "ENSP00000496476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "n.152-6013G>A",
"hgvs_p": null,
"transcript": "ENST00000562194.1",
"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": 618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"dbsnp": "rs75362060",
"frequency_reference_population": 0.005495663,
"hom_count_reference_population": 35,
"allele_count_reference_population": 8871,
"gnomad_exomes_af": 0.00555582,
"gnomad_genomes_af": 0.00491818,
"gnomad_exomes_ac": 8122,
"gnomad_genomes_ac": 749,
"gnomad_exomes_homalt": 34,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0037069618701934814,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.0636,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.37,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000301030.10",
"gene_symbol": "ANKRD11",
"hgnc_id": 21316,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5338G>A",
"hgvs_p": "p.Ala1780Thr"
}
],
"clinvar_disease": "ANKRD11-related disorder,Inborn genetic diseases,KBG syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:7",
"phenotype_combined": "KBG syndrome|not provided|Inborn genetic diseases|ANKRD11-related disorder|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}