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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: 20-32434666-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32434666&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 32434666,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000375687.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"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": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Ser",
"transcript": "NM_015338.6",
"protein_id": "NP_056153.2",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 1541,
"cds_start": 1954,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 7052,
"mane_select": "ENST00000375687.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"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": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Ser",
"transcript": "ENST00000375687.10",
"protein_id": "ENSP00000364839.4",
"transcript_support_level": 5,
"aa_start": 652,
"aa_end": null,
"aa_length": 1541,
"cds_start": 1954,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 7052,
"mane_select": "NM_015338.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Gly647Ser",
"transcript": "ENST00000306058.9",
"protein_id": "ENSP00000305119.5",
"transcript_support_level": 1,
"aa_start": 647,
"aa_end": null,
"aa_length": 1536,
"cds_start": 1939,
"cds_end": null,
"cds_length": 4611,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 6591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1771G>A",
"hgvs_p": "p.Gly591Ser",
"transcript": "NM_001363734.1",
"protein_id": "NP_001350663.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 1480,
"cds_start": 1771,
"cds_end": null,
"cds_length": 4443,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1771G>A",
"hgvs_p": "p.Gly591Ser",
"transcript": "ENST00000646985.1",
"protein_id": "ENSP00000495053.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 1480,
"cds_start": 1771,
"cds_end": null,
"cds_length": 4443,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 6666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.2215G>A",
"hgvs_p": "p.Gly739Ser",
"transcript": "XM_011528648.4",
"protein_id": "XP_011526950.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1628,
"cds_start": 2215,
"cds_end": null,
"cds_length": 4887,
"cdna_start": 2243,
"cdna_end": null,
"cdna_length": 6896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1951G>A",
"hgvs_p": "p.Gly651Ser",
"transcript": "XM_006723727.4",
"protein_id": "XP_006723790.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 1540,
"cds_start": 1951,
"cds_end": null,
"cds_length": 4623,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 7049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Gly645Ser",
"transcript": "XM_047439939.1",
"protein_id": "XP_047295895.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1534,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4605,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Gly642Ser",
"transcript": "XM_006723728.4",
"protein_id": "XP_006723791.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 1531,
"cds_start": 1924,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 6820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Gly641Ser",
"transcript": "XM_047439940.1",
"protein_id": "XP_047295896.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 1530,
"cds_start": 1921,
"cds_end": null,
"cds_length": 4593,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 6817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Gly624Ser",
"transcript": "XM_006723730.5",
"protein_id": "XP_006723793.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1870,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 2267,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Gly624Ser",
"transcript": "XM_047439941.1",
"protein_id": "XP_047295897.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1870,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 7226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Gly624Ser",
"transcript": "XM_047439942.1",
"protein_id": "XP_047295898.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1870,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 2264,
"cdna_end": null,
"cdna_length": 6917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Gly624Ser",
"transcript": "XM_047439943.1",
"protein_id": "XP_047295899.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1870,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 2489,
"cdna_end": null,
"cdna_length": 7142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Gly624Ser",
"transcript": "XM_047439944.1",
"protein_id": "XP_047295900.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1870,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 6833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1798G>A",
"hgvs_p": "p.Gly600Ser",
"transcript": "XM_047439945.1",
"protein_id": "XP_047295901.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 1489,
"cds_start": 1798,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 2243,
"cdna_end": null,
"cdna_length": 6896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Gly424Ser",
"transcript": "XM_006723733.2",
"protein_id": "XP_006723796.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 1313,
"cds_start": 1270,
"cds_end": null,
"cds_length": 3942,
"cdna_start": 3070,
"cdna_end": null,
"cdna_length": 7723,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "n.4307G>A",
"hgvs_p": null,
"transcript": "ENST00000647223.1",
"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": 8056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1869+85G>A",
"hgvs_p": null,
"transcript": "ENST00000651418.1",
"protein_id": "ENSP00000499150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3146,
"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": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "n.*30G>A",
"hgvs_p": null,
"transcript": "ENST00000644168.1",
"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": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"dbsnp": "rs3746609",
"frequency_reference_population": 0.0067187273,
"hom_count_reference_population": 401,
"allele_count_reference_population": 10765,
"gnomad_exomes_af": 0.00650686,
"gnomad_genomes_af": 0.00873678,
"gnomad_exomes_ac": 9435,
"gnomad_genomes_ac": 1330,
"gnomad_exomes_homalt": 366,
"gnomad_genomes_homalt": 35,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0014302730560302734,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.069,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.73,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000375687.10",
"gene_symbol": "ASXL1",
"hgnc_id": 18318,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Ser"
}
],
"clinvar_disease": "Bohring-Opitz syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5 O:1",
"phenotype_combined": "not specified|not provided|Bohring-Opitz syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}