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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: 21-36397429-ATT-GTG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=36397429&ref=ATT&alt=GTG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CHAF1B",
"hgnc_id": 1911,
"hgvs_c": "c.496_498delATTinsGTG",
"hgvs_p": "p.Ile166Val",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_005441.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1,PP3",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GTG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 559,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 633,
"cds_end": null,
"cds_length": 1680,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005441.3",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.496_498delATTinsGTG",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000314103.6",
"protein_coding": true,
"protein_id": "NP_005432.1",
"strand": true,
"transcript": "NM_005441.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 559,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 633,
"cds_end": null,
"cds_length": 1680,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000314103.6",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.496_498delATTinsGTG",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005441.3",
"protein_coding": true,
"protein_id": "ENSP00000315700.4",
"strand": true,
"transcript": "ENST00000314103.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 608,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 659,
"cds_end": null,
"cds_length": 1827,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937266.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.496_498delATTinsGTG",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607325.1",
"strand": true,
"transcript": "ENST00000937266.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 600,
"aa_ref": "I",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2404,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1803,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937269.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.619_621delATTinsGTG",
"hgvs_p": "p.Ile207Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607328.1",
"strand": true,
"transcript": "ENST00000937269.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 635,
"cds_end": null,
"cds_length": 1776,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878606.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.496_498delATTinsGTG",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548665.1",
"strand": true,
"transcript": "ENST00000878606.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 590,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 635,
"cds_end": null,
"cds_length": 1773,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878607.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.496_498delATTinsGTG",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548666.1",
"strand": true,
"transcript": "ENST00000878607.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 590,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2386,
"cdna_start": 648,
"cds_end": null,
"cds_length": 1773,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937268.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.496_498delATTinsGTG",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607327.1",
"strand": true,
"transcript": "ENST00000937268.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 584,
"aa_ref": "I",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1755,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878605.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.571_573delATTinsGTG",
"hgvs_p": "p.Ile191Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548664.1",
"strand": true,
"transcript": "ENST00000878605.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 559,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1680,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878608.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.496_498delATTinsGTG",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548667.1",
"strand": true,
"transcript": "ENST00000878608.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 558,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2309,
"cdna_start": 649,
"cds_end": null,
"cds_length": 1677,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937265.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.496_498delATTinsGTG",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607324.1",
"strand": true,
"transcript": "ENST00000937265.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 546,
"aa_ref": "I",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1641,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937271.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.619_621delATTinsGTG",
"hgvs_p": "p.Ile207Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607330.1",
"strand": true,
"transcript": "ENST00000937271.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 505,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1518,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878604.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.496_498delATTinsGTG",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548663.1",
"strand": true,
"transcript": "ENST00000878604.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 505,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2665,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1518,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937272.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.496_498delATTinsGTG",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607331.1",
"strand": true,
"transcript": "ENST00000937272.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 473,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 637,
"cds_end": null,
"cds_length": 1422,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937270.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.496_498delATTinsGTG",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607329.1",
"strand": true,
"transcript": "ENST00000937270.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 415,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 649,
"cds_end": null,
"cds_length": 1248,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937267.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.496_498delATTinsGTG",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607326.1",
"strand": true,
"transcript": "ENST00000937267.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 492,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": null,
"cds_end": null,
"cds_length": 1479,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951948.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.378-2092_378-2090delATTinsGTG",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622007.1",
"strand": true,
"transcript": "ENST00000951948.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3855,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047441000.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "c.18-2092_18-2090delATTinsGTG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296956.1",
"strand": true,
"transcript": "XM_047441000.1",
"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": 1152,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000480486.1",
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"hgvs_c": "n.573_575delATTinsGTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000480486.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 1911,
"gene_symbol": "CHAF1B",
"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": "Pathogenic",
"phylop100way_score": 8.557,
"pos": 36397429,
"ref": "ATT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_005441.3"
}
]
}