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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: 13-110880092-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110880092&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 110880092,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017664.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Val270Ile",
"transcript": "NM_017664.4",
"protein_id": "NP_060134.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 420,
"cds_start": 808,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267339.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017664.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Val270Ile",
"transcript": "ENST00000267339.6",
"protein_id": "ENSP00000267339.2",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 420,
"cds_start": 808,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017664.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267339.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Val286Ile",
"transcript": "ENST00000886513.1",
"protein_id": "ENSP00000556572.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 436,
"cds_start": 856,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886513.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Val282Ile",
"transcript": "ENST00000956310.1",
"protein_id": "ENSP00000626369.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 432,
"cds_start": 844,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956310.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Val276Ile",
"transcript": "ENST00000886510.1",
"protein_id": "ENSP00000556569.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 426,
"cds_start": 826,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886510.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Val276Ile",
"transcript": "ENST00000886511.1",
"protein_id": "ENSP00000556570.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 426,
"cds_start": 826,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886511.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Val276Ile",
"transcript": "ENST00000886514.1",
"protein_id": "ENSP00000556573.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 426,
"cds_start": 826,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886514.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Val264Ile",
"transcript": "ENST00000956311.1",
"protein_id": "ENSP00000626370.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 414,
"cds_start": 790,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956311.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Val238Ile",
"transcript": "ENST00000886509.1",
"protein_id": "ENSP00000556568.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 388,
"cds_start": 712,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886509.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Val235Ile",
"transcript": "ENST00000930251.1",
"protein_id": "ENSP00000600310.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 385,
"cds_start": 703,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930251.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Ile",
"transcript": "ENST00000886512.1",
"protein_id": "ENSP00000556571.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 369,
"cds_start": 655,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886512.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Val215Ile",
"transcript": "ENST00000886508.1",
"protein_id": "ENSP00000556567.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 365,
"cds_start": 643,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886508.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Val153Ile",
"transcript": "ENST00000930250.1",
"protein_id": "ENSP00000600309.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 303,
"cds_start": 457,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930250.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "c.*5G>A",
"hgvs_p": null,
"transcript": "XM_024449380.2",
"protein_id": "XP_024305148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": null,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449380.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "n.317G>A",
"hgvs_p": null,
"transcript": "ENST00000485844.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"hgvs_c": "n.1005G>A",
"hgvs_p": null,
"transcript": "NR_104587.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104587.2"
}
],
"gene_symbol": "ANKRD10",
"gene_hgnc_id": 20265,
"dbsnp": "rs755781873",
"frequency_reference_population": 0.000020526462,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000205265,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04234173893928528,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.0684,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.17,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_017664.4",
"gene_symbol": "ANKRD10",
"hgnc_id": 20265,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Val270Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}