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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: 20-32433643-C-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32433643&ref=C&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 32433643,
"ref": "C",
"alt": "CA",
"effect": "frameshift_variant",
"transcript": "NM_015338.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1446dupA",
"hgvs_p": "p.Val483fs",
"transcript": "NM_015338.6",
"protein_id": "NP_056153.2",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 1541,
"cds_start": 1447,
"cds_end": null,
"cds_length": 4626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375687.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015338.6"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1446dupA",
"hgvs_p": "p.Val483fs",
"transcript": "ENST00000375687.10",
"protein_id": "ENSP00000364839.4",
"transcript_support_level": 5,
"aa_start": 483,
"aa_end": null,
"aa_length": 1541,
"cds_start": 1447,
"cds_end": null,
"cds_length": 4626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015338.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375687.10"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1431dupA",
"hgvs_p": "p.Val478fs",
"transcript": "ENST00000306058.9",
"protein_id": "ENSP00000305119.5",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 1536,
"cds_start": 1432,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306058.9"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1443dupA",
"hgvs_p": "p.Val482fs",
"transcript": "ENST00000905973.1",
"protein_id": "ENSP00000576032.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 1540,
"cds_start": 1444,
"cds_end": null,
"cds_length": 4623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905973.1"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1290dupA",
"hgvs_p": "p.Val431fs",
"transcript": "ENST00000915088.1",
"protein_id": "ENSP00000585147.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1489,
"cds_start": 1291,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915088.1"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1263dupA",
"hgvs_p": "p.Val422fs",
"transcript": "NM_001363734.1",
"protein_id": "NP_001350663.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 1480,
"cds_start": 1264,
"cds_end": null,
"cds_length": 4443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363734.1"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1263dupA",
"hgvs_p": "p.Val422fs",
"transcript": "ENST00000646985.1",
"protein_id": "ENSP00000495053.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 1480,
"cds_start": 1264,
"cds_end": null,
"cds_length": 4443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646985.1"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1446dupA",
"hgvs_p": "p.Val483fs",
"transcript": "ENST00000651418.1",
"protein_id": "ENSP00000499150.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 625,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651418.1"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1707dupA",
"hgvs_p": "p.Val570fs",
"transcript": "XM_011528648.4",
"protein_id": "XP_011526950.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1628,
"cds_start": 1708,
"cds_end": null,
"cds_length": 4887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528648.4"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1443dupA",
"hgvs_p": "p.Val482fs",
"transcript": "XM_006723727.4",
"protein_id": "XP_006723790.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 1540,
"cds_start": 1444,
"cds_end": null,
"cds_length": 4623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723727.4"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1425dupA",
"hgvs_p": "p.Val476fs",
"transcript": "XM_047439939.1",
"protein_id": "XP_047295895.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 1534,
"cds_start": 1426,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439939.1"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1416dupA",
"hgvs_p": "p.Val473fs",
"transcript": "XM_006723728.4",
"protein_id": "XP_006723791.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 1531,
"cds_start": 1417,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723728.4"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1413dupA",
"hgvs_p": "p.Val472fs",
"transcript": "XM_047439940.1",
"protein_id": "XP_047295896.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 1530,
"cds_start": 1414,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439940.1"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1362dupA",
"hgvs_p": "p.Val455fs",
"transcript": "XM_006723730.5",
"protein_id": "XP_006723793.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1363,
"cds_end": null,
"cds_length": 4542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723730.5"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1362dupA",
"hgvs_p": "p.Val455fs",
"transcript": "XM_047439941.1",
"protein_id": "XP_047295897.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1363,
"cds_end": null,
"cds_length": 4542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439941.1"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1362dupA",
"hgvs_p": "p.Val455fs",
"transcript": "XM_047439942.1",
"protein_id": "XP_047295898.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1363,
"cds_end": null,
"cds_length": 4542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439942.1"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1362dupA",
"hgvs_p": "p.Val455fs",
"transcript": "XM_047439943.1",
"protein_id": "XP_047295899.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1363,
"cds_end": null,
"cds_length": 4542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439943.1"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1362dupA",
"hgvs_p": "p.Val455fs",
"transcript": "XM_047439944.1",
"protein_id": "XP_047295900.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 1513,
"cds_start": 1363,
"cds_end": null,
"cds_length": 4542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439944.1"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1290dupA",
"hgvs_p": "p.Val431fs",
"transcript": "XM_047439945.1",
"protein_id": "XP_047295901.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1489,
"cds_start": 1291,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439945.1"
},
{
"aa_ref": "V",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.762dupA",
"hgvs_p": "p.Val255fs",
"transcript": "XM_006723733.2",
"protein_id": "XP_006723796.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 1313,
"cds_start": 763,
"cds_end": null,
"cds_length": 3942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723733.2"
},
{
"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.988dupA",
"hgvs_p": null,
"transcript": "ENST00000644168.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000644168.1"
},
{
"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.3285dupA",
"hgvs_p": null,
"transcript": "ENST00000647223.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000647223.1"
},
{
"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.*233_*234insA",
"hgvs_p": null,
"transcript": "ENST00000553345.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000553345.5"
}
],
"gene_symbol": "ASXL1",
"gene_hgnc_id": 18318,
"dbsnp": "rs1555911515",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.799,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_015338.6",
"gene_symbol": "ASXL1",
"hgnc_id": 18318,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1446dupA",
"hgvs_p": "p.Val483fs"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}