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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: 7-55191736-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=55191736&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EGFR",
"hgnc_id": 3236,
"hgvs_c": "c.2487G>C",
"hgvs_p": "p.Glu829Asp",
"inheritance_mode": "AD,AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_005228.5",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "EGFR-AS1",
"hgnc_id": 40207,
"hgvs_c": "n.208-9259C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000836806.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9926,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9173828959465027,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "E",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9905,
"cdna_start": 2748,
"cds_end": null,
"cds_length": 3633,
"cds_start": 2487,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_005228.5",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.2487G>C",
"hgvs_p": "p.Glu829Asp",
"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": "D",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "E",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9905,
"cdna_start": 2748,
"cds_end": null,
"cds_length": 3633,
"cds_start": 2487,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000275493.7",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.2487G>C",
"hgvs_p": "p.Glu829Asp",
"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": "D",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "E",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3844,
"cdna_start": 2609,
"cds_end": null,
"cds_length": 3276,
"cds_start": 2352,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000455089.5",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.2352G>C",
"hgvs_p": "p.Glu784Asp",
"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": "D",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "E",
"aa_start": 826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4363,
"cdna_start": 2936,
"cds_end": null,
"cds_length": 3624,
"cds_start": 2478,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000898199.1",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.2478G>C",
"hgvs_p": "p.Glu826Asp",
"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": "D",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "E",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 2622,
"cds_end": null,
"cds_length": 3594,
"cds_start": 2448,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000898202.1",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.2448G>C",
"hgvs_p": "p.Glu816Asp",
"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": "D",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "E",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9770,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 3498,
"cds_start": 2352,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001346899.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.2352G>C",
"hgvs_p": "p.Glu784Asp",
"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": "D",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "E",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9676,
"cdna_start": 2519,
"cds_end": null,
"cds_length": 3474,
"cds_start": 2328,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001346900.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.2328G>C",
"hgvs_p": "p.Glu776Asp",
"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": "D",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "E",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9700,
"cdna_start": 2635,
"cds_end": null,
"cds_length": 3474,
"cds_start": 2328,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000450046.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.2328G>C",
"hgvs_p": "p.Glu776Asp",
"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": "D",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "E",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3983,
"cdna_start": 2748,
"cds_end": null,
"cds_length": 3411,
"cds_start": 2487,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001346898.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.2487G>C",
"hgvs_p": "p.Glu829Asp",
"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": "D",
"aa_end": null,
"aa_length": 1099,
"aa_ref": "E",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3855,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 3300,
"cds_start": 2154,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000898200.1",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.2154G>C",
"hgvs_p": "p.Glu718Asp",
"intron_rank": null,
"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": "D",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "E",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3848,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 3276,
"cds_start": 2352,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001346897.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.2352G>C",
"hgvs_p": "p.Glu784Asp",
"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": "D",
"aa_end": null,
"aa_length": 1016,
"aa_ref": "E",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3606,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 3051,
"cds_start": 1905,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000898201.1",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1905G>C",
"hgvs_p": "p.Glu635Asp",
"intron_rank": null,
"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
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 943,
"aa_ref": "E",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9104,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 2832,
"cds_start": 1686,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001346941.2",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.1686G>C",
"hgvs_p": "p.Glu562Asp",
"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": "D",
"aa_end": null,
"aa_length": 343,
"aa_ref": "E",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1418,
"cdna_start": 836,
"cds_end": null,
"cds_length": 1032,
"cds_start": 834,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000700145.1",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.834G>C",
"hgvs_p": "p.Glu278Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514824.1",
"strand": true,
"transcript": "ENST00000700145.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "E",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 48454,
"cdna_start": 41297,
"cds_end": null,
"cds_length": 3474,
"cds_start": 2328,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047419952.1",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.2328G>C",
"hgvs_p": "p.Glu776Asp",
"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": "D",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "E",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10631,
"cdna_start": 3474,
"cds_end": null,
"cds_length": 3474,
"cds_start": 2328,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047419953.1",
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"hgvs_c": "c.2328G>C",
"hgvs_p": "p.Glu776Asp",
"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": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 986,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000836806.1",
"gene_hgnc_id": 40207,
"gene_symbol": "EGFR-AS1",
"hgvs_c": "n.208-9259C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000836806.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs41420046",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 3236,
"gene_symbol": "EGFR",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": "Benign",
"phylop100way_score": 0.679,
"pos": 55191736,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.502,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005228.5"
}
]
}