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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: 7-55191792-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=55191792&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 55191792,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005228.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2543C>A",
"hgvs_p": "p.Pro848Gln",
"transcript": "NM_005228.5",
"protein_id": "NP_005219.2",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2543,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000275493.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005228.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2543C>A",
"hgvs_p": "p.Pro848Gln",
"transcript": "ENST00000275493.7",
"protein_id": "ENSP00000275493.2",
"transcript_support_level": 1,
"aa_start": 848,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2543,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005228.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275493.7"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2408C>A",
"hgvs_p": "p.Pro803Gln",
"transcript": "ENST00000455089.5",
"protein_id": "ENSP00000415559.1",
"transcript_support_level": 1,
"aa_start": 803,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2408,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455089.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2534C>A",
"hgvs_p": "p.Pro845Gln",
"transcript": "ENST00000898199.1",
"protein_id": "ENSP00000568258.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1207,
"cds_start": 2534,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898199.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2504C>A",
"hgvs_p": "p.Pro835Gln",
"transcript": "ENST00000898202.1",
"protein_id": "ENSP00000568261.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2504,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898202.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2408C>A",
"hgvs_p": "p.Pro803Gln",
"transcript": "NM_001346899.2",
"protein_id": "NP_001333828.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2408,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346899.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2384C>A",
"hgvs_p": "p.Pro795Gln",
"transcript": "NM_001346900.2",
"protein_id": "NP_001333829.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2384,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346900.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2384C>A",
"hgvs_p": "p.Pro795Gln",
"transcript": "ENST00000450046.2",
"protein_id": "ENSP00000413354.2",
"transcript_support_level": 4,
"aa_start": 795,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2384,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450046.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2543C>A",
"hgvs_p": "p.Pro848Gln",
"transcript": "NM_001346898.2",
"protein_id": "NP_001333827.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2543,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346898.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2210C>A",
"hgvs_p": "p.Pro737Gln",
"transcript": "ENST00000898200.1",
"protein_id": "ENSP00000568259.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898200.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2408C>A",
"hgvs_p": "p.Pro803Gln",
"transcript": "NM_001346897.2",
"protein_id": "NP_001333826.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2408,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346897.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.1961C>A",
"hgvs_p": "p.Pro654Gln",
"transcript": "ENST00000898201.1",
"protein_id": "ENSP00000568260.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1016,
"cds_start": 1961,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898201.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.1742C>A",
"hgvs_p": "p.Pro581Gln",
"transcript": "NM_001346941.2",
"protein_id": "NP_001333870.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 943,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346941.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.890C>A",
"hgvs_p": "p.Pro297Gln",
"transcript": "ENST00000700145.1",
"protein_id": "ENSP00000514824.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 343,
"cds_start": 890,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700145.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2384C>A",
"hgvs_p": "p.Pro795Gln",
"transcript": "XM_047419952.1",
"protein_id": "XP_047275908.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2384,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419952.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2384C>A",
"hgvs_p": "p.Pro795Gln",
"transcript": "XM_047419953.1",
"protein_id": "XP_047275909.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2384,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419953.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EGFR-AS1",
"gene_hgnc_id": 40207,
"hgvs_c": "n.208-9315G>T",
"hgvs_p": null,
"transcript": "ENST00000836806.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000836806.1"
}
],
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"dbsnp": "rs148934350",
"frequency_reference_population": 0.0000041043713,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410437,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6115520000457764,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.483,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7349,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.849,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM1"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005228.5",
"gene_symbol": "EGFR",
"hgnc_id": 3236,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2543C>A",
"hgvs_p": "p.Pro848Gln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000836806.1",
"gene_symbol": "EGFR-AS1",
"hgnc_id": 40207,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.208-9315G>T",
"hgvs_p": null
}
],
"clinvar_disease": "EGFR-related lung cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "EGFR-related lung cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}