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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: 17-4744855-CCTCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4744855&ref=CCTCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4744855,
"ref": "CCTCT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001267822.1",
"consequences": [
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1838-12_1838-9delCTCT",
"hgvs_p": null,
"transcript": "NM_001136046.3",
"protein_id": "NP_001129518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": null,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2600,
"mane_select": "ENST00000433935.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136046.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1838-12_1838-9delCTCT",
"hgvs_p": null,
"transcript": "ENST00000433935.6",
"protein_id": "ENSP00000391742.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": null,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2600,
"mane_select": "NM_001136046.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433935.6"
},
{
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1721-12_1721-9delCTCT",
"hgvs_p": null,
"transcript": "ENST00000592813.5",
"protein_id": "ENSP00000465435.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592813.5"
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1850_1853delCTCT",
"hgvs_p": "p.Ser617fs",
"transcript": "NM_001267822.1",
"protein_id": "NP_001254751.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 750,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267822.1"
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1850_1853delCTCT",
"hgvs_p": "p.Ser617fs",
"transcript": "ENST00000269289.10",
"protein_id": "ENSP00000269289.6",
"transcript_support_level": 5,
"aa_start": 617,
"aa_end": null,
"aa_length": 750,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269289.10"
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1850_1853delCTCT",
"hgvs_p": "p.Ser617fs",
"transcript": "ENST00000573751.2",
"protein_id": "ENSP00000459501.1",
"transcript_support_level": 2,
"aa_start": 617,
"aa_end": null,
"aa_length": 750,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573751.2"
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1838-12_1838-9delCTCT",
"hgvs_p": null,
"transcript": "ENST00000885791.1",
"protein_id": "ENSP00000555850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": null,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885791.1"
},
{
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1838-12_1838-9delCTCT",
"hgvs_p": null,
"transcript": "ENST00000885792.1",
"protein_id": "ENSP00000555851.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": null,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885792.1"
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1838-12_1838-9delCTCT",
"hgvs_p": null,
"transcript": "ENST00000885793.1",
"protein_id": "ENSP00000555852.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": null,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885793.1"
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1784-12_1784-9delCTCT",
"hgvs_p": null,
"transcript": "ENST00000941680.1",
"protein_id": "ENSP00000611739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": null,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941680.1"
},
{
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1721-12_1721-9delCTCT",
"hgvs_p": null,
"transcript": "NM_032265.2",
"protein_id": "NP_115641.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032265.2"
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1565-12_1565-9delCTCT",
"hgvs_p": null,
"transcript": "ENST00000916043.1",
"protein_id": "ENSP00000586102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": null,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916043.1"
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.2042-12_2042-9delCTCT",
"hgvs_p": null,
"transcript": "XM_047436923.1",
"protein_id": "XP_047292879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 810,
"cds_start": null,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436923.1"
},
{
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1925-12_1925-9delCTCT",
"hgvs_p": null,
"transcript": "XM_047436924.1",
"protein_id": "XP_047292880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 771,
"cds_start": null,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436924.1"
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "c.1523-12_1523-9delCTCT",
"hgvs_p": null,
"transcript": "XM_017025218.2",
"protein_id": "XP_016880707.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025218.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"hgvs_c": "n.*10_*13delCTCT",
"hgvs_p": null,
"transcript": "ENST00000571782.1",
"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": 785,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000571782.1"
}
],
"gene_symbol": "ZMYND15",
"gene_hgnc_id": 20997,
"dbsnp": "rs575052082",
"frequency_reference_population": 6.84061e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84061e-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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.25,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.963,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.25,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_001267822.1",
"gene_symbol": "ZMYND15",
"hgnc_id": 20997,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1850_1853delCTCT",
"hgvs_p": "p.Ser617fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}