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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: 16-89284023-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89284023&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89284023,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013275.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2519G>A",
"hgvs_p": "p.Arg840Gln",
"transcript": "NM_013275.6",
"protein_id": "NP_037407.4",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 2663,
"cds_start": 2519,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 2980,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": "ENST00000301030.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2519G>A",
"hgvs_p": "p.Arg840Gln",
"transcript": "ENST00000301030.10",
"protein_id": "ENSP00000301030.4",
"transcript_support_level": 5,
"aa_start": 840,
"aa_end": null,
"aa_length": 2663,
"cds_start": 2519,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 2980,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": "NM_013275.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2519G>A",
"hgvs_p": "p.Arg840Gln",
"transcript": "ENST00000378330.7",
"protein_id": "ENSP00000367581.2",
"transcript_support_level": 1,
"aa_start": 840,
"aa_end": null,
"aa_length": 2663,
"cds_start": 2519,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 2810,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2519G>A",
"hgvs_p": "p.Arg840Gln",
"transcript": "NM_001256182.2",
"protein_id": "NP_001243111.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 2663,
"cds_start": 2519,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 9372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2519G>A",
"hgvs_p": "p.Arg840Gln",
"transcript": "NM_001256183.2",
"protein_id": "NP_001243112.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 2663,
"cds_start": 2519,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 2977,
"cdna_end": null,
"cdna_length": 9298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.2519G>A",
"hgvs_p": "p.Arg840Gln",
"transcript": "ENST00000642600.2",
"protein_id": "ENSP00000495226.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 2663,
"cds_start": 2519,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 2895,
"cdna_end": null,
"cdna_length": 9227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.2144G>A",
"hgvs_p": "p.Arg715Gln",
"transcript": "ENST00000642443.1",
"protein_id": "ENSP00000493644.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 943,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2834,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 2915,
"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.*2322G>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.*2322G>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.744+4505G>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.151+4505G>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "n.*241G>A",
"hgvs_p": null,
"transcript": "ENST00000645212.1",
"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": 4050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"dbsnp": "rs149776253",
"frequency_reference_population": 0.00093859195,
"hom_count_reference_population": 4,
"allele_count_reference_population": 1515,
"gnomad_exomes_af": 0.000964543,
"gnomad_genomes_af": 0.000689483,
"gnomad_exomes_ac": 1410,
"gnomad_genomes_ac": 105,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02410280704498291,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.1103,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.393,
"phylop100way_prediction": "Uncertain_significance",
"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": "NM_013275.6",
"gene_symbol": "ANKRD11",
"hgnc_id": 21316,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2519G>A",
"hgvs_p": "p.Arg840Gln"
}
],
"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:3 B:4",
"phenotype_combined": "not provided|KBG syndrome|Inborn genetic diseases|not specified|ANKRD11-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}