← 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: 8-42178946-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42178946&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLAT",
"hgnc_id": 9051,
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Gly494Glu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_000930.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.8836,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.978197455406189,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 562,
"aa_ref": "G",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_000930.5",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Gly494Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000220809.9",
"protein_coding": true,
"protein_id": "NP_000921.1",
"strand": false,
"transcript": "NM_000930.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 562,
"aa_ref": "G",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000220809.9",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Gly494Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000930.5",
"protein_coding": true,
"protein_id": "ENSP00000220809.4",
"strand": false,
"transcript": "ENST00000220809.9",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "G",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000352041.7",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Gly448Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000270188.6",
"strand": false,
"transcript": "ENST00000352041.7",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 583,
"aa_ref": "G",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 1723,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000679300.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Gly494Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503050.1",
"strand": false,
"transcript": "ENST00000679300.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 583,
"aa_ref": "G",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2607,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000884025.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1544G>A",
"hgvs_p": "p.Gly515Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554084.1",
"strand": false,
"transcript": "ENST00000884025.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 562,
"aa_ref": "G",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 1631,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000429089.6",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Gly494Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392045.2",
"strand": false,
"transcript": "ENST00000429089.6",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 562,
"aa_ref": "G",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1725,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000679151.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Gly494Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504311.1",
"strand": false,
"transcript": "ENST00000679151.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 562,
"aa_ref": "G",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000884022.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Gly494Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554081.1",
"strand": false,
"transcript": "ENST00000884022.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 562,
"aa_ref": "G",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000884023.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Gly494Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554082.1",
"strand": false,
"transcript": "ENST00000884023.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 562,
"aa_ref": "G",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000915840.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Gly494Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585899.1",
"strand": false,
"transcript": "ENST00000915840.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 562,
"aa_ref": "G",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000944405.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Gly494Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614464.1",
"strand": false,
"transcript": "ENST00000944405.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "G",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_033011.4",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Gly448Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_127509.1",
"strand": false,
"transcript": "NM_033011.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 499,
"aa_ref": "G",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000519510.5",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Gly431Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428886.1",
"strand": false,
"transcript": "ENST00000519510.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 474,
"aa_ref": "G",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000944404.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Gly406Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614463.1",
"strand": false,
"transcript": "ENST00000944404.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 473,
"aa_ref": "G",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2795,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001319189.2",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Gly405Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306118.1",
"strand": false,
"transcript": "NM_001319189.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 473,
"aa_ref": "G",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1613,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000524009.5",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Gly405Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429401.1",
"strand": false,
"transcript": "ENST00000524009.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 436,
"aa_ref": "G",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1655,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 1311,
"cds_start": 1103,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000429710.6",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407861.2",
"strand": false,
"transcript": "ENST00000429710.6",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 390,
"aa_ref": "G",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1173,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000884024.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Gly322Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554083.1",
"strand": false,
"transcript": "ENST00000884024.1",
"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": 3359,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000677722.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "n.2419G>A",
"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": "ENST00000677722.1",
"transcript_support_level": null
},
{
"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": 2747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000678083.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "n.*318G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504824.1",
"strand": false,
"transcript": "ENST00000678083.1",
"transcript_support_level": null
},
{
"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": 2536,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000678676.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "n.*840G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502858.1",
"strand": false,
"transcript": "ENST00000678676.1",
"transcript_support_level": null
},
{
"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": 2747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000678083.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "n.*318G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504824.1",
"strand": false,
"transcript": "ENST00000678083.1",
"transcript_support_level": null
},
{
"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": 2536,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000678676.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "n.*840G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502858.1",
"strand": false,
"transcript": "ENST00000678676.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs61755432",
"effect": "missense_variant",
"frequency_reference_population": 6.840975e-7,
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84097e-7,
"gnomad_exomes_homalt": 0,
"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": "Uncertain_significance",
"phylop100way_score": 7.373,
"pos": 42178946,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.86,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_000930.5"
}
]
}