← Back to variant description
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: 17-44398531-TGG-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44398531&ref=TGG&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "GPATCH8",
"hgnc_id": 29066,
"hgvs_c": "c.3544_3546delCCAinsAGT",
"hgvs_p": "p.Pro1182Ser",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001002909.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1502,
"aa_ref": "P",
"aa_start": 1182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6832,
"cdna_start": 3582,
"cds_end": null,
"cds_length": 4509,
"cds_start": 3544,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001002909.4",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3544_3546delCCAinsAGT",
"hgvs_p": "p.Pro1182Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000591680.6",
"protein_coding": true,
"protein_id": "NP_001002909.1",
"strand": false,
"transcript": "NM_001002909.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1502,
"aa_ref": "P",
"aa_start": 1182,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6832,
"cdna_start": 3582,
"cds_end": null,
"cds_length": 4509,
"cds_start": 3544,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591680.6",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3544_3546delCCAinsAGT",
"hgvs_p": "p.Pro1182Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001002909.4",
"protein_coding": true,
"protein_id": "ENSP00000467556.1",
"strand": false,
"transcript": "ENST00000591680.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000587228.5",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "n.*3430_*3432delCCAinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468719.1",
"strand": false,
"transcript": "ENST00000587228.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000587228.5",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "n.*3430_*3432delCCAinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468719.1",
"strand": false,
"transcript": "ENST00000587228.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1477,
"aa_ref": "P",
"aa_start": 1157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6757,
"cdna_start": 3507,
"cds_end": null,
"cds_length": 4434,
"cds_start": 3469,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001304939.2",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3469_3471delCCAinsAGT",
"hgvs_p": "p.Pro1157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291868.1",
"strand": false,
"transcript": "NM_001304939.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1426,
"aa_ref": "P",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6685,
"cdna_start": 3534,
"cds_end": null,
"cds_length": 4281,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928550.1",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3316_3318delCCAinsAGT",
"hgvs_p": "p.Pro1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598609.1",
"strand": false,
"transcript": "ENST00000928550.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1424,
"aa_ref": "P",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6973,
"cdna_start": 3723,
"cds_end": null,
"cds_length": 4275,
"cds_start": 3310,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001304940.2",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3310_3312delCCAinsAGT",
"hgvs_p": "p.Pro1104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291869.1",
"strand": false,
"transcript": "NM_001304940.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1424,
"aa_ref": "P",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6850,
"cdna_start": 3600,
"cds_end": null,
"cds_length": 4275,
"cds_start": 3310,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001304941.2",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3310_3312delCCAinsAGT",
"hgvs_p": "p.Pro1104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291870.1",
"strand": false,
"transcript": "NM_001304941.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1424,
"aa_ref": "P",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6759,
"cdna_start": 3509,
"cds_end": null,
"cds_length": 4275,
"cds_start": 3310,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001304942.2",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3310_3312delCCAinsAGT",
"hgvs_p": "p.Pro1104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291871.1",
"strand": false,
"transcript": "NM_001304942.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1424,
"aa_ref": "P",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6909,
"cdna_start": 3659,
"cds_end": null,
"cds_length": 4275,
"cds_start": 3310,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001304943.2",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3310_3312delCCAinsAGT",
"hgvs_p": "p.Pro1104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291872.1",
"strand": false,
"transcript": "NM_001304943.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1378,
"aa_ref": "P",
"aa_start": 1058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6639,
"cdna_start": 3389,
"cds_end": null,
"cds_length": 4137,
"cds_start": 3172,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928549.1",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3172_3174delCCAinsAGT",
"hgvs_p": "p.Pro1058Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598608.1",
"strand": false,
"transcript": "ENST00000928549.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1353,
"aa_ref": "P",
"aa_start": 1033,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6574,
"cdna_start": 3324,
"cds_end": null,
"cds_length": 4062,
"cds_start": 3097,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928548.1",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3097_3099delCCAinsAGT",
"hgvs_p": "p.Pro1033Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598607.1",
"strand": false,
"transcript": "ENST00000928548.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "P",
"aa_start": 1211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6919,
"cdna_start": 3669,
"cds_end": null,
"cds_length": 4596,
"cds_start": 3631,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011524557.2",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3631_3633delCCAinsAGT",
"hgvs_p": "p.Pro1211Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522859.1",
"strand": false,
"transcript": "XM_011524557.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "P",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6862,
"cdna_start": 3612,
"cds_end": null,
"cds_length": 4362,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011524558.3",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3397_3399delCCAinsAGT",
"hgvs_p": "p.Pro1133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522860.1",
"strand": false,
"transcript": "XM_011524558.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "P",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6880,
"cdna_start": 3630,
"cds_end": null,
"cds_length": 4362,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011524559.3",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3397_3399delCCAinsAGT",
"hgvs_p": "p.Pro1133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522861.1",
"strand": false,
"transcript": "XM_011524559.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "P",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6765,
"cdna_start": 3515,
"cds_end": null,
"cds_length": 4362,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011524561.3",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3397_3399delCCAinsAGT",
"hgvs_p": "p.Pro1133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522863.1",
"strand": false,
"transcript": "XM_011524561.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "P",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7879,
"cdna_start": 4629,
"cds_end": null,
"cds_length": 4362,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017024373.2",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3397_3399delCCAinsAGT",
"hgvs_p": "p.Pro1133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879862.1",
"strand": false,
"transcript": "XM_017024373.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "P",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11529,
"cdna_start": 8279,
"cds_end": null,
"cds_length": 4362,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435672.1",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3397_3399delCCAinsAGT",
"hgvs_p": "p.Pro1133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291628.1",
"strand": false,
"transcript": "XM_047435672.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "P",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11574,
"cdna_start": 8324,
"cds_end": null,
"cds_length": 4362,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435673.1",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3397_3399delCCAinsAGT",
"hgvs_p": "p.Pro1133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291629.1",
"strand": false,
"transcript": "XM_047435673.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1424,
"aa_ref": "P",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13612,
"cdna_start": 10362,
"cds_end": null,
"cds_length": 4275,
"cds_start": 3310,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435674.1",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "c.3310_3312delCCAinsAGT",
"hgvs_p": "p.Pro1104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291630.1",
"strand": false,
"transcript": "XM_047435674.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 8109,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000335500.8",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "n.4860_4862delCCAinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000335500.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5602,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000635257.1",
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"hgvs_c": "n.3643_3645delCCAinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000635257.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29066,
"gene_symbol": "GPATCH8",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.682,
"pos": 44398531,
"ref": "TGG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001002909.4"
}
]
}