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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: 11-125644545-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=125644545&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 125644545,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001114122.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "NM_001114122.3",
"protein_id": "NP_001107594.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 476,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": "ENST00000438015.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "ENST00000438015.7",
"protein_id": "ENSP00000388648.1",
"transcript_support_level": 5,
"aa_start": 379,
"aa_end": null,
"aa_length": 476,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": "NM_001114122.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1183C>G",
"hgvs_p": "p.Arg395Gly",
"transcript": "ENST00000427383.6",
"protein_id": "ENSP00000391090.2",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 492,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "ENST00000428830.6",
"protein_id": "ENSP00000412504.2",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 476,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "ENST00000534070.5",
"protein_id": "ENSP00000435371.1",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 476,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.853C>G",
"hgvs_p": "p.Arg285Gly",
"transcript": "ENST00000544373.5",
"protein_id": "ENSP00000442317.2",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 382,
"cds_start": 853,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1183C>G",
"hgvs_p": "p.Arg395Gly",
"transcript": "ENST00000711049.1",
"protein_id": "ENSP00000518558.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 492,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 1912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "NM_001114121.2",
"protein_id": "NP_001107593.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 476,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "NM_001274.5",
"protein_id": "NP_001265.2",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 476,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "ENST00000532449.6",
"protein_id": "ENSP00000481616.2",
"transcript_support_level": 2,
"aa_start": 379,
"aa_end": null,
"aa_length": 476,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "NM_001244846.1",
"protein_id": "NP_001231775.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 442,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 4053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "ENST00000278916.8",
"protein_id": "ENSP00000278916.4",
"transcript_support_level": 5,
"aa_start": 379,
"aa_end": null,
"aa_length": 442,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.853C>G",
"hgvs_p": "p.Arg285Gly",
"transcript": "NM_001330428.1",
"protein_id": "NP_001317357.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 382,
"cds_start": 853,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.832C>G",
"hgvs_p": "p.Arg278Gly",
"transcript": "NM_001330427.2",
"protein_id": "NP_001317356.2",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 375,
"cds_start": 832,
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"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1183C>G",
"hgvs_p": "p.Arg395Gly",
"transcript": "XM_011542560.3",
"protein_id": "XP_011540862.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 492,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "XM_024448337.2",
"protein_id": "XP_024304105.1",
"transcript_support_level": null,
"aa_start": 379,
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"cdna_start": 1714,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "XM_047426311.1",
"protein_id": "XP_047282267.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 476,
"cds_start": 1135,
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"cdna_start": 1574,
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"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.934C>G",
"hgvs_p": "p.Arg312Gly",
"transcript": "XM_047426312.1",
"protein_id": "XP_047282268.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 409,
"cds_start": 934,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1151,
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"cdna_length": 3281,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.853C>G",
"hgvs_p": "p.Arg285Gly",
"transcript": "XM_047426313.1",
"protein_id": "XP_047282269.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
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"cds_start": 853,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "n.1135C>G",
"hgvs_p": null,
"transcript": "ENST00000524737.6",
"protein_id": "ENSP00000432890.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "n.1808C>G",
"hgvs_p": null,
"transcript": "NR_045204.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "n.1569C>G",
"hgvs_p": null,
"transcript": "NR_045205.1",
"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": 3692,
"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": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "n.1808C>G",
"hgvs_p": null,
"transcript": "XR_007062447.1",
"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,
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"cdna_length": 5615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"dbsnp": "rs756054805",
"frequency_reference_population": 6.8411526e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84115e-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": 0.8890721201896667,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.694,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.997,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.212,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001114122.3",
"gene_symbol": "CHEK1",
"hgnc_id": 1925,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}