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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: 7-55181297-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=55181297&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 55181297,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005228.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2288C>T",
"hgvs_p": "p.Ala763Val",
"transcript": "NM_005228.5",
"protein_id": "NP_005219.2",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2288,
"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": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2288C>T",
"hgvs_p": "p.Ala763Val",
"transcript": "ENST00000275493.7",
"protein_id": "ENSP00000275493.2",
"transcript_support_level": 1,
"aa_start": 763,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2288,
"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": "A",
"aa_alt": "V",
"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.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "ENST00000455089.5",
"protein_id": "ENSP00000415559.1",
"transcript_support_level": 1,
"aa_start": 718,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2153,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2279C>T",
"hgvs_p": "p.Ala760Val",
"transcript": "ENST00000898199.1",
"protein_id": "ENSP00000568258.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1207,
"cds_start": 2279,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2249C>T",
"hgvs_p": "p.Ala750Val",
"transcript": "ENST00000898202.1",
"protein_id": "ENSP00000568261.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2249,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "NM_001346899.2",
"protein_id": "NP_001333828.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2153,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2129C>T",
"hgvs_p": "p.Ala710Val",
"transcript": "NM_001346900.2",
"protein_id": "NP_001333829.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2129,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2129C>T",
"hgvs_p": "p.Ala710Val",
"transcript": "ENST00000450046.2",
"protein_id": "ENSP00000413354.2",
"transcript_support_level": 4,
"aa_start": 710,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2129,
"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": "A",
"aa_alt": "V",
"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.2288C>T",
"hgvs_p": "p.Ala763Val",
"transcript": "NM_001346898.2",
"protein_id": "NP_001333827.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2288,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.1955C>T",
"hgvs_p": "p.Ala652Val",
"transcript": "ENST00000898200.1",
"protein_id": "ENSP00000568259.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1955,
"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": "A",
"aa_alt": "V",
"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.2153C>T",
"hgvs_p": "p.Ala718Val",
"transcript": "NM_001346897.2",
"protein_id": "NP_001333826.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2153,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Ala569Val",
"transcript": "ENST00000898201.1",
"protein_id": "ENSP00000568260.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1016,
"cds_start": 1706,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.1487C>T",
"hgvs_p": "p.Ala496Val",
"transcript": "NM_001346941.2",
"protein_id": "NP_001333870.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 943,
"cds_start": 1487,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Ala212Val",
"transcript": "ENST00000700145.1",
"protein_id": "ENSP00000514824.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 343,
"cds_start": 635,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2129C>T",
"hgvs_p": "p.Ala710Val",
"transcript": "XM_047419952.1",
"protein_id": "XP_047275908.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2129,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2129C>T",
"hgvs_p": "p.Ala710Val",
"transcript": "XM_047419953.1",
"protein_id": "XP_047275909.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2129,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR-AS1",
"gene_hgnc_id": 40207,
"hgvs_c": "n.1311G>A",
"hgvs_p": null,
"transcript": "ENST00000442411.3",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000442411.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR-AS1",
"gene_hgnc_id": 40207,
"hgvs_c": "n.1274G>A",
"hgvs_p": null,
"transcript": "NR_047551.1",
"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": "NR_047551.1"
}
],
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"dbsnp": "rs1476693500",
"frequency_reference_population": 6.8408065e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84081e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9160407781600952,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.421,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9729,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.875,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005228.5",
"gene_symbol": "EGFR",
"hgnc_id": 3236,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2288C>T",
"hgvs_p": "p.Ala763Val"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000442411.3",
"gene_symbol": "EGFR-AS1",
"hgnc_id": 40207,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1311G>A",
"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
}