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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: 18-33739111-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=33739111&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 33739111,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000269197.12",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1707C>T",
"hgvs_p": "p.Thr569Thr",
"transcript": "NM_030632.3",
"protein_id": "NP_085135.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 2248,
"cds_start": 1707,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 11760,
"mane_select": "ENST00000269197.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1707C>T",
"hgvs_p": "p.Thr569Thr",
"transcript": "ENST00000269197.12",
"protein_id": "ENSP00000269197.4",
"transcript_support_level": 5,
"aa_start": 569,
"aa_end": null,
"aa_length": 2248,
"cds_start": 1707,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 11760,
"mane_select": "NM_030632.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1710C>T",
"hgvs_p": "p.Thr570Thr",
"transcript": "ENST00000696964.1",
"protein_id": "ENSP00000513003.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 2249,
"cds_start": 1710,
"cds_end": null,
"cds_length": 6750,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 11763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1587C>T",
"hgvs_p": "p.Thr529Thr",
"transcript": "ENST00000681521.1",
"protein_id": "ENSP00000506037.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 2208,
"cds_start": 1587,
"cds_end": null,
"cds_length": 6627,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 11640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1539C>T",
"hgvs_p": "p.Thr513Thr",
"transcript": "ENST00000642541.1",
"protein_id": "ENSP00000493665.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1539,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 4216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1710C>T",
"hgvs_p": "p.Thr570Thr",
"transcript": "XM_005258356.2",
"protein_id": "XP_005258413.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 2249,
"cds_start": 1710,
"cds_end": null,
"cds_length": 6750,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 11763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1683C>T",
"hgvs_p": "p.Thr561Thr",
"transcript": "XM_011526205.3",
"protein_id": "XP_011524507.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 2240,
"cds_start": 1683,
"cds_end": null,
"cds_length": 6723,
"cdna_start": 7146,
"cdna_end": null,
"cdna_length": 16786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Thr543Thr",
"transcript": "XM_011526206.3",
"protein_id": "XP_011524508.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 2222,
"cds_start": 1629,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 11368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Thr543Thr",
"transcript": "XM_017026012.1",
"protein_id": "XP_016881501.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 2222,
"cds_start": 1629,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 5137,
"cdna_end": null,
"cdna_length": 14777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1539C>T",
"hgvs_p": "p.Thr513Thr",
"transcript": "XM_011526209.2",
"protein_id": "XP_011524511.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 2192,
"cds_start": 1539,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 11507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1539C>T",
"hgvs_p": "p.Thr513Thr",
"transcript": "XM_011526212.2",
"protein_id": "XP_011524514.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 2192,
"cds_start": 1539,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 11504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "c.1539C>T",
"hgvs_p": "p.Thr513Thr",
"transcript": "XM_024451269.2",
"protein_id": "XP_024307037.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 2192,
"cds_start": 1539,
"cds_end": null,
"cds_length": 6579,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 11498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "n.*831C>T",
"hgvs_p": null,
"transcript": "ENST00000592288.6",
"protein_id": "ENSP00000465053.1",
"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": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "n.*1366C>T",
"hgvs_p": null,
"transcript": "ENST00000592541.6",
"protein_id": "ENSP00000466655.2",
"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": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "n.*1733C>T",
"hgvs_p": null,
"transcript": "ENST00000593195.6",
"protein_id": "ENSP00000466073.1",
"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": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "n.*831C>T",
"hgvs_p": null,
"transcript": "ENST00000592288.6",
"protein_id": "ENSP00000465053.1",
"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": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "n.*1366C>T",
"hgvs_p": null,
"transcript": "ENST00000592541.6",
"protein_id": "ENSP00000466655.2",
"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": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"hgvs_c": "n.*1733C>T",
"hgvs_p": null,
"transcript": "ENST00000593195.6",
"protein_id": "ENSP00000466073.1",
"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": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASXL3",
"gene_hgnc_id": 29357,
"dbsnp": "rs371181408",
"frequency_reference_population": 0.000107232954,
"hom_count_reference_population": 0,
"allele_count_reference_population": 173,
"gnomad_exomes_af": 0.0000615976,
"gnomad_genomes_af": 0.000545285,
"gnomad_exomes_ac": 90,
"gnomad_genomes_ac": 83,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.243,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000269197.12",
"gene_symbol": "ASXL3",
"hgnc_id": 29357,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1707C>T",
"hgvs_p": "p.Thr569Thr"
}
],
"clinvar_disease": "ASXL3-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "not specified|not provided|ASXL3-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}