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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: 17-8888686-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8888686&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PIK3R5",
"hgnc_id": 30035,
"hgvs_c": "c.1101G>A",
"hgvs_p": "p.Ser367Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_014308.4",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000297004",
"hgnc_id": null,
"hgvs_c": "n.182+986C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000744212.1",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124903922",
"hgnc_id": null,
"hgvs_c": "n.79+986C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "XR_007065613.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 458618,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "17",
"clinvar_classification": "Benign",
"clinvar_disease": "Ataxia with oculomotor apraxia type 3,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6600000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 880,
"aa_ref": "S",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4491,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 2643,
"cds_start": 1101,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001142633.3",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.1101G>A",
"hgvs_p": "p.Ser367Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000447110.6",
"protein_coding": true,
"protein_id": "NP_001136105.1",
"strand": false,
"transcript": "NM_001142633.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 880,
"aa_ref": "S",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4491,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 2643,
"cds_start": 1101,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000447110.6",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.1101G>A",
"hgvs_p": "p.Ser367Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001142633.3",
"protein_coding": true,
"protein_id": "ENSP00000392812.1",
"strand": false,
"transcript": "ENST00000447110.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 880,
"aa_ref": "S",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 2643,
"cds_start": 1101,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000581552.5",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.1101G>A",
"hgvs_p": "p.Ser367Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462433.1",
"strand": false,
"transcript": "ENST00000581552.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4318,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000623421.3",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.-58G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485280.1",
"strand": false,
"transcript": "ENST00000623421.3",
"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": 4317,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000269300.8",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "n.*290G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000269300.3",
"strand": false,
"transcript": "ENST00000269300.8",
"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": 4317,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000269300.8",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "n.*290G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000269300.3",
"strand": false,
"transcript": "ENST00000269300.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 880,
"aa_ref": "S",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4433,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 2643,
"cds_start": 1101,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_014308.4",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.1101G>A",
"hgvs_p": "p.Ser367Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055123.2",
"strand": false,
"transcript": "NM_014308.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 879,
"aa_ref": "S",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4488,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 2640,
"cds_start": 1101,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001388396.1",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.1101G>A",
"hgvs_p": "p.Ser367Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375325.1",
"strand": false,
"transcript": "NM_001388396.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 879,
"aa_ref": "S",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 2640,
"cds_start": 1101,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000584803.1",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.1101G>A",
"hgvs_p": "p.Ser367Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462680.1",
"strand": false,
"transcript": "ENST00000584803.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 880,
"aa_ref": "S",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4983,
"cdna_start": 1718,
"cds_end": null,
"cds_length": 2643,
"cds_start": 1101,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047435709.1",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.1101G>A",
"hgvs_p": "p.Ser367Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291665.1",
"strand": false,
"transcript": "XM_047435709.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "S",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2108,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1101,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047435710.1",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.1101G>A",
"hgvs_p": "p.Ser367Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291666.1",
"strand": false,
"transcript": "XM_047435710.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 631,
"aa_ref": "S",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1101,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047435711.1",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.1101G>A",
"hgvs_p": "p.Ser367Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291667.1",
"strand": false,
"transcript": "XM_047435711.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001251851.2",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.-58G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238780.1",
"strand": false,
"transcript": "NM_001251851.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4375,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001251852.2",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.-58G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238781.1",
"strand": false,
"transcript": "NM_001251852.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4337,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001251853.2",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.-58G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238782.1",
"strand": false,
"transcript": "NM_001251853.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4316,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001251855.2",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.-58G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238784.1",
"strand": false,
"transcript": "NM_001251855.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4489,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001388397.1",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.-58G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375326.1",
"strand": false,
"transcript": "NM_001388397.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001388398.1",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.-58G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375327.1",
"strand": false,
"transcript": "NM_001388398.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4670,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001388399.1",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.-58G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375328.1",
"strand": false,
"transcript": "NM_001388399.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4339,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000611902.4",
"gene_hgnc_id": 30035,
"gene_symbol": "PIK3R5",
"hgvs_c": "c.-58G>A",
"hgvs_p": null,
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