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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: 19-47557809-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=47557809&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 47557809,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000391901.8",
"consequences": [
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "NM_001277075.3",
"protein_id": "NP_001264004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1346,
"cds_start": -4,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4886,
"mane_select": "ENST00000391901.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "ENST00000391901.8",
"protein_id": "ENSP00000375770.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1346,
"cds_start": -4,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4886,
"mane_select": "NM_001277075.3",
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "XM_011527368.3",
"protein_id": "XP_011525670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1351,
"cds_start": -4,
"cds_end": null,
"cds_length": 4056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4901,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "XM_011527369.3",
"protein_id": "XP_011525671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1351,
"cds_start": -4,
"cds_end": null,
"cds_length": 4056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4865,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "XM_011527371.3",
"protein_id": "XP_011525673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1351,
"cds_start": -4,
"cds_end": null,
"cds_length": 4056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4717,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "XM_047439505.1",
"protein_id": "XP_047295461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1351,
"cds_start": -4,
"cds_end": null,
"cds_length": 4056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5939,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "XM_005259311.6",
"protein_id": "XP_005259368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1346,
"cds_start": -4,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5802,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "XM_047439506.1",
"protein_id": "XP_047295462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1346,
"cds_start": -4,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4918,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "XM_017027351.3",
"protein_id": "XP_016882840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1304,
"cds_start": -4,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5679,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "XM_011527372.4",
"protein_id": "XP_011525674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1296,
"cds_start": -4,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5654,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "XM_011527373.4",
"protein_id": "XP_011525675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1293,
"cds_start": -4,
"cds_end": null,
"cds_length": 3882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5644,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-119-2020G>A",
"hgvs_p": null,
"transcript": "XM_011527374.4",
"protein_id": "XP_011525676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1289,
"cds_start": -4,
"cds_end": null,
"cds_length": 3870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5652,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "XM_047439507.1",
"protein_id": "XP_047295463.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1063,
"cds_start": -4,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4511,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "XM_011527375.3",
"protein_id": "XP_011525677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
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"cdna_length": 4199,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "XM_047439508.1",
"protein_id": "XP_047295464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
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"cdna_length": 4195,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null,
"transcript": "XM_005259314.5",
"protein_id": "XP_005259371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"cds_start": -4,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
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"cdna_length": 3880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"hgvs_c": "n.1138-1855G>A",
"hgvs_p": null,
"transcript": "XR_935865.3",
"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": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF541",
"gene_hgnc_id": 25294,
"dbsnp": "rs2974190",
"frequency_reference_population": 0.23190534,
"hom_count_reference_population": 9139,
"allele_count_reference_population": 35046,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.231905,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 35046,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 9139,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.03,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.68,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000391901.8",
"gene_symbol": "ZNF541",
"hgnc_id": 25294,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-98-1855G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}