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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: 7-55161509-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=55161509&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",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EGFR",
"hgnc_id": 3236,
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Gly503Gly",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_005228.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 18287,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"chr": "7",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "EGFR-related lung cancer,Hereditary cancer-predisposing syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7300000190734863,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9905,
"cdna_start": 1770,
"cds_end": null,
"cds_length": 3633,
"cds_start": 1509,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_005228.5",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Gly503Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000275493.7",
"protein_coding": true,
"protein_id": "NP_005219.2",
"strand": true,
"transcript": "NM_005228.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9905,
"cdna_start": 1770,
"cds_end": null,
"cds_length": 3633,
"cds_start": 1509,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000275493.7",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Gly503Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005228.5",
"protein_coding": true,
"protein_id": "ENSP00000275493.2",
"strand": true,
"transcript": "ENST00000275493.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "G",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3844,
"cdna_start": 1631,
"cds_end": null,
"cds_length": 3276,
"cds_start": 1374,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000455089.5",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1374C>T",
"hgvs_p": "p.Gly458Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415559.1",
"strand": true,
"transcript": "ENST00000455089.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 705,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": 1770,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1509,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000344576.7",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Gly503Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345973.2",
"strand": true,
"transcript": "ENST00000344576.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 628,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2239,
"cdna_start": 1755,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1509,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000342916.7",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Gly503Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342376.3",
"strand": true,
"transcript": "ENST00000342916.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "G",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4363,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 3624,
"cds_start": 1500,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000898199.1",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1500C>T",
"hgvs_p": "p.Gly500Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568258.1",
"strand": true,
"transcript": "ENST00000898199.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 1683,
"cds_end": null,
"cds_length": 3594,
"cds_start": 1509,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000898202.1",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Gly503Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568261.1",
"strand": true,
"transcript": "ENST00000898202.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "G",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9770,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 3498,
"cds_start": 1374,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001346899.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1374C>T",
"hgvs_p": "p.Gly458Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333828.1",
"strand": true,
"transcript": "NM_001346899.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "G",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9676,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 3474,
"cds_start": 1350,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001346900.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1350C>T",
"hgvs_p": "p.Gly450Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333829.1",
"strand": true,
"transcript": "NM_001346900.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "G",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9700,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 3474,
"cds_start": 1350,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000450046.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1350C>T",
"hgvs_p": "p.Gly450Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413354.2",
"strand": true,
"transcript": "ENST00000450046.2",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3983,
"cdna_start": 1770,
"cds_end": null,
"cds_length": 3411,
"cds_start": 1509,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001346898.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Gly503Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333827.1",
"strand": true,
"transcript": "NM_001346898.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "G",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3848,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 3276,
"cds_start": 1374,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001346897.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1374C>T",
"hgvs_p": "p.Gly458Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333826.1",
"strand": true,
"transcript": "NM_001346897.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 943,
"aa_ref": "G",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9104,
"cdna_start": 969,
"cds_end": null,
"cds_length": 2832,
"cds_start": 708,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001346941.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.708C>T",
"hgvs_p": "p.Gly236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333870.1",
"strand": true,
"transcript": "NM_001346941.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 705,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": 1770,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1509,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_201284.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Gly503Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958441.1",
"strand": true,
"transcript": "NM_201284.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 628,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 1770,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1509,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_201282.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Gly503Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958439.1",
"strand": true,
"transcript": "NM_201282.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "G",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 48454,
"cdna_start": 40319,
"cds_end": null,
"cds_length": 3474,
"cds_start": 1350,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047419952.1",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1350C>T",
"hgvs_p": "p.Gly450Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275908.1",
"strand": true,
"transcript": "XM_047419952.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "G",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10631,
"cdna_start": 2496,
"cds_end": null,
"cds_length": 3474,
"cds_start": 1350,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047419953.1",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1350C>T",
"hgvs_p": "p.Gly450Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275909.1",
"strand": true,
"transcript": "XM_047419953.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1099,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3855,
"cdna_start": null,
"cds_end": null,
"cds_length": 3300,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898200.1",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1299-2224C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568259.1",
"strand": true,
"transcript": "ENST00000898200.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1016,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3606,
"cdna_start": null,
"cds_end": null,
"cds_length": 3051,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898201.1",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1298+3756C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568260.1",
"strand": true,
"transcript": "ENST00000898201.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs17336800",
"effect": "synonymous_variant",
"frequency_reference_population": 0.011329829,
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"gnomad_exomes_ac": 17009,
"gnomad_exomes_af": 0.0116366,
"gnomad_exomes_homalt": 102,
"gnomad_genomes_ac": 1278,
"gnomad_genomes_af": 0.00838682,
"gnomad_genomes_homalt": 12,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 114,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "EGFR-related lung cancer|not provided|not specified|Hereditary cancer-predisposing syndrome",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.215,
"pos": 55161509,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.10999999940395355,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.11,
"transcript": "NM_005228.5"
}
]
}