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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: 4-36068152-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=36068152&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 36068152,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_015230.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "c.4870C>A",
"hgvs_p": "p.Arg1624Arg",
"transcript": "NM_015230.4",
"protein_id": "NP_056045.2",
"transcript_support_level": null,
"aa_start": 1624,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4870,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5365,
"cdna_end": null,
"cdna_length": 7513,
"mane_select": "ENST00000303965.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015230.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "c.4870C>A",
"hgvs_p": "p.Arg1624Arg",
"transcript": "ENST00000303965.9",
"protein_id": "ENSP00000302895.4",
"transcript_support_level": 1,
"aa_start": 1624,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4870,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5365,
"cdna_end": null,
"cdna_length": 7513,
"mane_select": "NM_015230.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303965.9"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "n.147+5537C>A",
"hgvs_p": null,
"transcript": "ENST00000503225.5",
"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": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000503225.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "c.4870C>A",
"hgvs_p": "p.Arg1624Arg",
"transcript": "ENST00000942324.1",
"protein_id": "ENSP00000612383.1",
"transcript_support_level": null,
"aa_start": 1624,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4870,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5107,
"cdna_end": null,
"cdna_length": 7253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942324.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "c.4801C>A",
"hgvs_p": "p.Arg1601Arg",
"transcript": "ENST00000905954.1",
"protein_id": "ENSP00000576013.1",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 1681,
"cds_start": 4801,
"cds_end": null,
"cds_length": 5046,
"cdna_start": 5559,
"cdna_end": null,
"cdna_length": 7707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905954.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "c.4870C>A",
"hgvs_p": "p.Arg1624Arg",
"transcript": "XM_047449571.1",
"protein_id": "XP_047305527.1",
"transcript_support_level": null,
"aa_start": 1624,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4870,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5058,
"cdna_end": null,
"cdna_length": 7206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449571.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "c.4801C>A",
"hgvs_p": "p.Arg1601Arg",
"transcript": "XM_047449572.1",
"protein_id": "XP_047305528.1",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 1681,
"cds_start": 4801,
"cds_end": null,
"cds_length": 5046,
"cdna_start": 4989,
"cdna_end": null,
"cdna_length": 7137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449572.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "c.4768C>A",
"hgvs_p": "p.Arg1590Arg",
"transcript": "XM_047449573.1",
"protein_id": "XP_047305529.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4768,
"cds_end": null,
"cds_length": 5013,
"cdna_start": 4956,
"cdna_end": null,
"cdna_length": 7104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449573.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "c.4674+5537C>A",
"hgvs_p": null,
"transcript": "XM_047449574.1",
"protein_id": "XP_047305530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1648,
"cds_start": null,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449574.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "c.4743+5537C>A",
"hgvs_p": null,
"transcript": "XM_047449575.1",
"protein_id": "XP_047305531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1640,
"cds_start": null,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "n.5331C>A",
"hgvs_p": null,
"transcript": "NR_146894.2",
"protein_id": null,
"transcript_support_level": null,
"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": 7479,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146894.2"
},
{
"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": 37,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "n.5233+5537C>A",
"hgvs_p": null,
"transcript": "NR_146893.2",
"protein_id": null,
"transcript_support_level": null,
"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": 7557,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146893.2"
},
{
"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": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "n.4931+5537C>A",
"hgvs_p": null,
"transcript": "XR_001741112.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 7645,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001741112.3"
},
{
"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": 31,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "n.2982+5537C>A",
"hgvs_p": null,
"transcript": "XR_001741123.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 5696,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001741123.2"
},
{
"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": 38,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "n.4931+5537C>A",
"hgvs_p": null,
"transcript": "XR_007096348.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 7398,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096348.1"
},
{
"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": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "n.4931+5537C>A",
"hgvs_p": null,
"transcript": "XR_007096349.1",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096349.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "n.4931+5537C>A",
"hgvs_p": null,
"transcript": "XR_007096350.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 7255,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096350.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "n.4898+5537C>A",
"hgvs_p": null,
"transcript": "XR_007096351.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 7612,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096351.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "n.4862+5537C>A",
"hgvs_p": null,
"transcript": "XR_007096352.1",
"protein_id": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096352.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"hgvs_c": "n.4931+5537C>A",
"hgvs_p": null,
"transcript": "XR_007096353.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7017,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096353.1"
}
],
"gene_symbol": "ARAP2",
"gene_hgnc_id": 16924,
"dbsnp": "rs868517624",
"frequency_reference_population": 6.8419297e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84193e-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": -0.41999998688697815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.328,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_015230.4",
"gene_symbol": "ARAP2",
"hgnc_id": 16924,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4870C>A",
"hgvs_p": "p.Arg1624Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}