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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: 22-41178192-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41178192&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41178192,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000263253.9",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"hgvs_c": "c.6481A>G",
"hgvs_p": "p.Met2161Val",
"transcript": "NM_001429.4",
"protein_id": "NP_001420.2",
"transcript_support_level": null,
"aa_start": 2161,
"aa_end": null,
"aa_length": 2414,
"cds_start": 6481,
"cds_end": null,
"cds_length": 7245,
"cdna_start": 6894,
"cdna_end": null,
"cdna_length": 8779,
"mane_select": "ENST00000263253.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"hgvs_c": "c.6481A>G",
"hgvs_p": "p.Met2161Val",
"transcript": "ENST00000263253.9",
"protein_id": "ENSP00000263253.7",
"transcript_support_level": 1,
"aa_start": 2161,
"aa_end": null,
"aa_length": 2414,
"cds_start": 6481,
"cds_end": null,
"cds_length": 7245,
"cdna_start": 6894,
"cdna_end": null,
"cdna_length": 8779,
"mane_select": "NM_001429.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"hgvs_c": "c.6481A>G",
"hgvs_p": "p.Met2161Val",
"transcript": "ENST00000715703.1",
"protein_id": "ENSP00000520505.1",
"transcript_support_level": null,
"aa_start": 2161,
"aa_end": null,
"aa_length": 2414,
"cds_start": 6481,
"cds_end": null,
"cds_length": 7245,
"cdna_start": 6976,
"cdna_end": null,
"cdna_length": 8859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"hgvs_c": "c.6403A>G",
"hgvs_p": "p.Met2135Val",
"transcript": "NM_001362843.2",
"protein_id": "NP_001349772.1",
"transcript_support_level": null,
"aa_start": 2135,
"aa_end": null,
"aa_length": 2388,
"cds_start": 6403,
"cds_end": null,
"cds_length": 7167,
"cdna_start": 6816,
"cdna_end": null,
"cdna_length": 8701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"hgvs_c": "c.6403A>G",
"hgvs_p": "p.Met2135Val",
"transcript": "ENST00000674155.1",
"protein_id": "ENSP00000501078.1",
"transcript_support_level": null,
"aa_start": 2135,
"aa_end": null,
"aa_length": 2388,
"cds_start": 6403,
"cds_end": null,
"cds_length": 7167,
"cdna_start": 6403,
"cdna_end": null,
"cdna_length": 8288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.82+4871T>C",
"hgvs_p": null,
"transcript": "ENST00000415054.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.267-3368T>C",
"hgvs_p": null,
"transcript": "ENST00000420537.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.249-8611T>C",
"hgvs_p": null,
"transcript": "ENST00000717629.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.252-1719T>C",
"hgvs_p": null,
"transcript": "ENST00000717630.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.357+4871T>C",
"hgvs_p": null,
"transcript": "ENST00000717631.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.267+8101T>C",
"hgvs_p": null,
"transcript": "ENST00000717632.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.333-1719T>C",
"hgvs_p": null,
"transcript": "ENST00000717633.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.77+17290T>C",
"hgvs_p": null,
"transcript": "ENST00000774286.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.249-8006T>C",
"hgvs_p": null,
"transcript": "ENST00000774287.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.288+4871T>C",
"hgvs_p": null,
"transcript": "ENST00000774288.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.203-3368T>C",
"hgvs_p": null,
"transcript": "ENST00000774289.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.253-1976T>C",
"hgvs_p": null,
"transcript": "ENST00000774290.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.164-1980T>C",
"hgvs_p": null,
"transcript": "ENST00000774291.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EP300-AS1",
"gene_hgnc_id": 50504,
"hgvs_c": "n.319-1980T>C",
"hgvs_p": null,
"transcript": "ENST00000774292.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EP300",
"gene_hgnc_id": 3373,
"dbsnp": "rs188035979",
"frequency_reference_population": 0.00030728363,
"hom_count_reference_population": 3,
"allele_count_reference_population": 496,
"gnomad_exomes_af": 0.000300298,
"gnomad_genomes_af": 0.000374355,
"gnomad_exomes_ac": 439,
"gnomad_genomes_ac": 57,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007124155759811401,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.176,
"revel_prediction": "Benign",
"alphamissense_score": 0.085,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.25,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000263253.9",
"gene_symbol": "EP300",
"hgnc_id": 3373,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6481A>G",
"hgvs_p": "p.Met2161Val"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000415054.1",
"gene_symbol": "EP300-AS1",
"hgnc_id": 50504,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.82+4871T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Colorectal cancer,EP300-related disorder,Menke-Hennekam syndrome 2,Rubinstein-Taybi syndrome due to CREBBP mutations,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1 O:1",
"phenotype_combined": "not specified|not provided|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Rubinstein-Taybi syndrome due to CREBBP mutations;Menke-Hennekam syndrome 2;Colorectal cancer;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|EP300-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}