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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: 4-110004540-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=110004540&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 110004540,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001963.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.3209C>G",
"hgvs_p": "p.Pro1070Arg",
"transcript": "NM_001963.6",
"protein_id": "NP_001954.2",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265171.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001963.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.3209C>G",
"hgvs_p": "p.Pro1070Arg",
"transcript": "ENST00000265171.10",
"protein_id": "ENSP00000265171.5",
"transcript_support_level": 1,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001963.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265171.10"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.3086C>G",
"hgvs_p": "p.Pro1029Arg",
"transcript": "ENST00000503392.1",
"protein_id": "ENSP00000421384.1",
"transcript_support_level": 1,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503392.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "n.894C>G",
"hgvs_p": null,
"transcript": "ENST00000509996.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000509996.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.3209C>G",
"hgvs_p": "p.Pro1070Arg",
"transcript": "ENST00000868530.1",
"protein_id": "ENSP00000538589.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868530.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.3155C>G",
"hgvs_p": "p.Pro1052Arg",
"transcript": "ENST00000868531.1",
"protein_id": "ENSP00000538590.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3155,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868531.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.3086C>G",
"hgvs_p": "p.Pro1029Arg",
"transcript": "NM_001178130.3",
"protein_id": "NP_001171601.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178130.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.3083C>G",
"hgvs_p": "p.Pro1028Arg",
"transcript": "NM_001178131.3",
"protein_id": "NP_001171602.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3083,
"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_001178131.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.3083C>G",
"hgvs_p": "p.Pro1028Arg",
"transcript": "ENST00000509793.5",
"protein_id": "ENSP00000424316.1",
"transcript_support_level": 2,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3083,
"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": "ENST00000509793.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.3041C>G",
"hgvs_p": "p.Pro1014Arg",
"transcript": "ENST00000868529.1",
"protein_id": "ENSP00000538588.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3041,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868529.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.2984C>G",
"hgvs_p": "p.Pro995Arg",
"transcript": "ENST00000868533.1",
"protein_id": "ENSP00000538592.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868533.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.2966C>G",
"hgvs_p": "p.Pro989Arg",
"transcript": "ENST00000951655.1",
"protein_id": "ENSP00000621714.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951655.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.2840C>G",
"hgvs_p": "p.Pro947Arg",
"transcript": "NM_001357021.2",
"protein_id": "NP_001343950.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001357021.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.2840C>G",
"hgvs_p": "p.Pro947Arg",
"transcript": "ENST00000652245.1",
"protein_id": "ENSP00000498337.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652245.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Pro799Arg",
"transcript": "ENST00000868532.1",
"protein_id": "ENSP00000538591.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 936,
"cds_start": 2396,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "c.2492-6662C>G",
"hgvs_p": null,
"transcript": "ENST00000934497.1",
"protein_id": "ENSP00000604556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934497.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "n.40C>G",
"hgvs_p": null,
"transcript": "ENST00000537316.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000537316.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "n.40C>G",
"hgvs_p": null,
"transcript": "ENST00000540840.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000540840.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"hgvs_c": "n.294C>G",
"hgvs_p": null,
"transcript": "ENST00000544918.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000544918.1"
}
],
"gene_symbol": "EGF",
"gene_hgnc_id": 3229,
"dbsnp": "rs121434567",
"frequency_reference_population": 6.8408343e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84083e-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": 0.3115959167480469,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.492,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1265,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.391,
"phylop100way_prediction": "Benign",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,BP4",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001963.6",
"gene_symbol": "EGF",
"hgnc_id": 3229,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.3209C>G",
"hgvs_p": "p.Pro1070Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}