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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: 22-41178336-AACCAGTTCCAGC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41178336&ref=AACCAGTTCCAGC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41178336,
"ref": "AACCAGTTCCAGC",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000263253.9",
"consequences": [
{
"aa_ref": "NQFQQ",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.6627_6638delCCAGTTCCAGCA",
"hgvs_p": "p.Asn2209_Gln2213delinsLys",
"transcript": "NM_001429.4",
"protein_id": "NP_001420.2",
"transcript_support_level": null,
"aa_start": 2209,
"aa_end": null,
"aa_length": 2414,
"cds_start": 6627,
"cds_end": null,
"cds_length": 7245,
"cdna_start": 7040,
"cdna_end": null,
"cdna_length": 8779,
"mane_select": "ENST00000263253.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NQFQQ",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.6627_6638delCCAGTTCCAGCA",
"hgvs_p": "p.Asn2209_Gln2213delinsLys",
"transcript": "ENST00000263253.9",
"protein_id": "ENSP00000263253.7",
"transcript_support_level": 1,
"aa_start": 2209,
"aa_end": null,
"aa_length": 2414,
"cds_start": 6627,
"cds_end": null,
"cds_length": 7245,
"cdna_start": 7040,
"cdna_end": null,
"cdna_length": 8779,
"mane_select": "NM_001429.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NQFQQ",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.6627_6638delCCAGTTCCAGCA",
"hgvs_p": "p.Asn2209_Gln2213delinsLys",
"transcript": "ENST00000715703.1",
"protein_id": "ENSP00000520505.1",
"transcript_support_level": null,
"aa_start": 2209,
"aa_end": null,
"aa_length": 2414,
"cds_start": 6627,
"cds_end": null,
"cds_length": 7245,
"cdna_start": 7122,
"cdna_end": null,
"cdna_length": 8859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NQFQQ",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.6549_6560delCCAGTTCCAGCA",
"hgvs_p": "p.Asn2183_Gln2187delinsLys",
"transcript": "NM_001362843.2",
"protein_id": "NP_001349772.1",
"transcript_support_level": null,
"aa_start": 2183,
"aa_end": null,
"aa_length": 2388,
"cds_start": 6549,
"cds_end": null,
"cds_length": 7167,
"cdna_start": 6962,
"cdna_end": null,
"cdna_length": 8701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NQFQQ",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.6549_6560delCCAGTTCCAGCA",
"hgvs_p": "p.Asn2183_Gln2187delinsLys",
"transcript": "ENST00000674155.1",
"protein_id": "ENSP00000501078.1",
"transcript_support_level": null,
"aa_start": 2183,
"aa_end": null,
"aa_length": 2388,
"cds_start": 6549,
"cds_end": null,
"cds_length": 7167,
"cdna_start": 6549,
"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+4715_82+4726delGCTGGAACTGGT",
"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.267-3524_267-3513delGCTGGAACTGGT",
"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.249-8767_249-8756delGCTGGAACTGGT",
"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.252-1875_252-1864delGCTGGAACTGGT",
"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+4715_357+4726delGCTGGAACTGGT",
"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+7945_267+7956delGCTGGAACTGGT",
"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.333-1875_333-1864delGCTGGAACTGGT",
"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+17134_77+17145delGCTGGAACTGGT",
"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.249-8162_249-8151delGCTGGAACTGGT",
"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+4715_288+4726delGCTGGAACTGGT",
"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.203-3524_203-3513delGCTGGAACTGGT",
"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.253-2132_253-2121delGCTGGAACTGGT",
"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.164-2136_164-2125delGCTGGAACTGGT",
"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.319-2136_319-2125delGCTGGAACTGGT",
"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": "rs587778256",
"frequency_reference_population": 0.0018585887,
"hom_count_reference_population": 5,
"allele_count_reference_population": 3000,
"gnomad_exomes_af": 0.00187976,
"gnomad_genomes_af": 0.00165526,
"gnomad_exomes_ac": 2748,
"gnomad_genomes_ac": 252,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.859,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Likely_benign",
"acmg_criteria": "PM4,PP3,BP6,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 5,
"pathogenic_score": 3,
"criteria": [
"PM4",
"PP3",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000263253.9",
"gene_symbol": "EP300",
"hgnc_id": 3373,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6627_6638delCCAGTTCCAGCA",
"hgvs_p": "p.Asn2209_Gln2213delinsLys"
},
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000415054.1",
"gene_symbol": "EP300-AS1",
"hgnc_id": 50504,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.82+4715_82+4726delGCTGGAACTGGT",
"hgvs_p": null
}
],
"clinvar_disease": "EP300-related disorder,Inborn genetic diseases,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,See cases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1 LB:4 B:2 O:1",
"phenotype_combined": "not specified|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|not provided|See cases|Inborn genetic diseases|EP300-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}