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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: 20-32433586-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32433586&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 32433586,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000375687.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1388G>C",
"hgvs_p": "p.Ser463Thr",
"transcript": "NM_015338.6",
"protein_id": "NP_056153.2",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1541,
"cds_start": 1388,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 7052,
"mane_select": "ENST00000375687.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1388G>C",
"hgvs_p": "p.Ser463Thr",
"transcript": "ENST00000375687.10",
"protein_id": "ENSP00000364839.4",
"transcript_support_level": 5,
"aa_start": 463,
"aa_end": null,
"aa_length": 1541,
"cds_start": 1388,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 7052,
"mane_select": "NM_015338.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1373G>C",
"hgvs_p": "p.Ser458Thr",
"transcript": "ENST00000306058.9",
"protein_id": "ENSP00000305119.5",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 1536,
"cds_start": 1373,
"cds_end": null,
"cds_length": 4611,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 6591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1205G>C",
"hgvs_p": "p.Ser402Thr",
"transcript": "NM_001363734.1",
"protein_id": "NP_001350663.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 1480,
"cds_start": 1205,
"cds_end": null,
"cds_length": 4443,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1205G>C",
"hgvs_p": "p.Ser402Thr",
"transcript": "ENST00000646985.1",
"protein_id": "ENSP00000495053.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 1480,
"cds_start": 1205,
"cds_end": null,
"cds_length": 4443,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 6666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1388G>C",
"hgvs_p": "p.Ser463Thr",
"transcript": "ENST00000651418.1",
"protein_id": "ENSP00000499150.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 625,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1834,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1649G>C",
"hgvs_p": "p.Ser550Thr",
"transcript": "XM_011528648.4",
"protein_id": "XP_011526950.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1628,
"cds_start": 1649,
"cds_end": null,
"cds_length": 4887,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 6896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1385G>C",
"hgvs_p": "p.Ser462Thr",
"transcript": "XM_006723727.4",
"protein_id": "XP_006723790.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 1540,
"cds_start": 1385,
"cds_end": null,
"cds_length": 4623,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 7049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1367G>C",
"hgvs_p": "p.Ser456Thr",
"transcript": "XM_047439939.1",
"protein_id": "XP_047295895.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 1534,
"cds_start": 1367,
"cds_end": null,
"cds_length": 4605,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1358G>C",
"hgvs_p": "p.Ser453Thr",
"transcript": "XM_006723728.4",
"protein_id": "XP_006723791.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 1531,
"cds_start": 1358,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 6820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1355G>C",
"hgvs_p": "p.Ser452Thr",
"transcript": "XM_047439940.1",
"protein_id": "XP_047295896.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1530,
"cds_start": 1355,
"cds_end": null,
"cds_length": 4593,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 6817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1304G>C",
"hgvs_p": "p.Ser435Thr",
"transcript": "XM_006723730.5",
"protein_id": "XP_006723793.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1304,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1304G>C",
"hgvs_p": "p.Ser435Thr",
"transcript": "XM_047439941.1",
"protein_id": "XP_047295897.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1304,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 7226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1304G>C",
"hgvs_p": "p.Ser435Thr",
"transcript": "XM_047439942.1",
"protein_id": "XP_047295898.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1304,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 6917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1304G>C",
"hgvs_p": "p.Ser435Thr",
"transcript": "XM_047439943.1",
"protein_id": "XP_047295899.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1304,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 7142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1304G>C",
"hgvs_p": "p.Ser435Thr",
"transcript": "XM_047439944.1",
"protein_id": "XP_047295900.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1304,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 6833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Ser411Thr",
"transcript": "XM_047439945.1",
"protein_id": "XP_047295901.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1489,
"cds_start": 1232,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 6896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "c.704G>C",
"hgvs_p": "p.Ser235Thr",
"transcript": "XM_006723733.2",
"protein_id": "XP_006723796.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1313,
"cds_start": 704,
"cds_end": null,
"cds_length": 3942,
"cdna_start": 2504,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "n.930G>C",
"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
},
{
"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.3227G>C",
"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": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"hgvs_c": "n.*176G>C",
"hgvs_p": null,
"transcript": "ENST00000553345.5",
"protein_id": null,
"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": 809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"dbsnp": "rs373486603",
"frequency_reference_population": 0.00004151023,
"hom_count_reference_population": 1,
"allele_count_reference_population": 67,
"gnomad_exomes_af": 0.000044464,
"gnomad_genomes_af": 0.0000131403,
"gnomad_exomes_ac": 65,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03444874286651611,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.0915,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.874,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "ENST00000375687.10",
"gene_symbol": "ASXL1",
"hgnc_id": 18318,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1388G>C",
"hgvs_p": "p.Ser463Thr"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}