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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: 18-33745622-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=33745622&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 33745622,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000269197.12",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5774C>T",
"hgvs_p": "p.Thr1925Ile",
"transcript": "NM_030632.3",
"protein_id": "NP_085135.1",
"transcript_support_level": null,
"aa_start": 1925,
"aa_end": null,
"aa_length": 2248,
"cds_start": 5774,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 6187,
"cdna_end": null,
"cdna_length": 11760,
"mane_select": "ENST00000269197.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5774C>T",
"hgvs_p": "p.Thr1925Ile",
"transcript": "ENST00000269197.12",
"protein_id": "ENSP00000269197.4",
"transcript_support_level": 5,
"aa_start": 1925,
"aa_end": null,
"aa_length": 2248,
"cds_start": 5774,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 6187,
"cdna_end": null,
"cdna_length": 11760,
"mane_select": "NM_030632.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5777C>T",
"hgvs_p": "p.Thr1926Ile",
"transcript": "ENST00000696964.1",
"protein_id": "ENSP00000513003.1",
"transcript_support_level": null,
"aa_start": 1926,
"aa_end": null,
"aa_length": 2249,
"cds_start": 5777,
"cds_end": null,
"cds_length": 6750,
"cdna_start": 6190,
"cdna_end": null,
"cdna_length": 11763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5654C>T",
"hgvs_p": "p.Thr1885Ile",
"transcript": "ENST00000681521.1",
"protein_id": "ENSP00000506037.1",
"transcript_support_level": null,
"aa_start": 1885,
"aa_end": null,
"aa_length": 2208,
"cds_start": 5654,
"cds_end": null,
"cds_length": 6627,
"cdna_start": 6067,
"cdna_end": null,
"cdna_length": 11640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5777C>T",
"hgvs_p": "p.Thr1926Ile",
"transcript": "XM_005258356.2",
"protein_id": "XP_005258413.1",
"transcript_support_level": null,
"aa_start": 1926,
"aa_end": null,
"aa_length": 2249,
"cds_start": 5777,
"cds_end": null,
"cds_length": 6750,
"cdna_start": 6190,
"cdna_end": null,
"cdna_length": 11763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5750C>T",
"hgvs_p": "p.Thr1917Ile",
"transcript": "XM_011526205.3",
"protein_id": "XP_011524507.1",
"transcript_support_level": null,
"aa_start": 1917,
"aa_end": null,
"aa_length": 2240,
"cds_start": 5750,
"cds_end": null,
"cds_length": 6723,
"cdna_start": 11213,
"cdna_end": null,
"cdna_length": 16786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5696C>T",
"hgvs_p": "p.Thr1899Ile",
"transcript": "XM_011526206.3",
"protein_id": "XP_011524508.1",
"transcript_support_level": null,
"aa_start": 1899,
"aa_end": null,
"aa_length": 2222,
"cds_start": 5696,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 5795,
"cdna_end": null,
"cdna_length": 11368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5696C>T",
"hgvs_p": "p.Thr1899Ile",
"transcript": "XM_017026012.1",
"protein_id": "XP_016881501.1",
"transcript_support_level": null,
"aa_start": 1899,
"aa_end": null,
"aa_length": 2222,
"cds_start": 5696,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 9204,
"cdna_end": null,
"cdna_length": 14777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5606C>T",
"hgvs_p": "p.Thr1869Ile",
"transcript": "XM_011526209.2",
"protein_id": "XP_011524511.1",
"transcript_support_level": null,
"aa_start": 1869,
"aa_end": null,
"aa_length": 2192,
"cds_start": 5606,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 5934,
"cdna_end": null,
"cdna_length": 11507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5606C>T",
"hgvs_p": "p.Thr1869Ile",
"transcript": "XM_011526212.2",
"protein_id": "XP_011524514.1",
"transcript_support_level": null,
"aa_start": 1869,
"aa_end": null,
"aa_length": 2192,
"cds_start": 5606,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 5931,
"cdna_end": null,
"cdna_length": 11504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.5606C>T",
"hgvs_p": "p.Thr1869Ile",
"transcript": "XM_024451269.2",
"protein_id": "XP_024307037.1",
"transcript_support_level": null,
"aa_start": 1869,
"aa_end": null,
"aa_length": 2192,
"cds_start": 5606,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 5925,
"cdna_end": null,
"cdna_length": 11498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"dbsnp": "rs1555745166",
"frequency_reference_population": 6.841368e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84137e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09474831819534302,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.155,
"revel_prediction": "Benign",
"alphamissense_score": 0.0957,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.42,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000269197.12",
"gene_symbol": "ASXL3",
"hgnc_id": 29357,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5774C>T",
"hgvs_p": "p.Thr1925Ile"
}
],
"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
}