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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: 16-27346572-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27346572&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 27346572,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000418.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.467A>T",
"hgvs_p": "p.His156Leu",
"transcript": "NM_000418.4",
"protein_id": "NP_000409.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 825,
"cds_start": 467,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "ENST00000395762.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.467A>T",
"hgvs_p": "p.His156Leu",
"transcript": "ENST00000395762.7",
"protein_id": "ENSP00000379111.2",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 825,
"cds_start": 467,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "NM_000418.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.467A>T",
"hgvs_p": "p.His156Leu",
"transcript": "ENST00000543915.6",
"protein_id": "ENSP00000441667.2",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 825,
"cds_start": 467,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.467A>T",
"hgvs_p": "p.His156Leu",
"transcript": "NM_001257406.2",
"protein_id": "NP_001244335.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 825,
"cds_start": 467,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.422A>T",
"hgvs_p": "p.His141Leu",
"transcript": "NM_001257407.2",
"protein_id": "NP_001244336.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 810,
"cds_start": 422,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.422A>T",
"hgvs_p": "p.His141Leu",
"transcript": "ENST00000170630.6",
"protein_id": "ENSP00000170630.3",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 810,
"cds_start": 422,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.542A>T",
"hgvs_p": "p.His181Leu",
"transcript": "XM_047434066.1",
"protein_id": "XP_047290022.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 850,
"cds_start": 542,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.467A>T",
"hgvs_p": "p.His156Leu",
"transcript": "XM_011545825.2",
"protein_id": "XP_011544127.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 825,
"cds_start": 467,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.467A>T",
"hgvs_p": "p.His156Leu",
"transcript": "XM_011545826.3",
"protein_id": "XP_011544128.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 825,
"cds_start": 467,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.467A>T",
"hgvs_p": "p.His156Leu",
"transcript": "XM_011545827.3",
"protein_id": "XP_011544129.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 825,
"cds_start": 467,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.467A>T",
"hgvs_p": "p.His156Leu",
"transcript": "XM_047434067.1",
"protein_id": "XP_047290023.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 825,
"cds_start": 467,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.200A>T",
"hgvs_p": "p.His67Leu",
"transcript": "XM_011545828.3",
"protein_id": "XP_011544130.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 736,
"cds_start": 200,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.467A>T",
"hgvs_p": "p.His156Leu",
"transcript": "XM_017023211.2",
"protein_id": "XP_016878700.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 304,
"cds_start": 467,
"cds_end": null,
"cds_length": 915,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "n.487A>T",
"hgvs_p": null,
"transcript": "ENST00000565696.1",
"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": 533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "n.*510A>T",
"hgvs_p": null,
"transcript": "ENST00000568746.5",
"protein_id": "ENSP00000455714.1",
"transcript_support_level": 2,
"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": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.-9A>T",
"hgvs_p": null,
"transcript": "NM_001257997.2",
"protein_id": "NP_001244926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 665,
"cds_start": -4,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "n.*510A>T",
"hgvs_p": null,
"transcript": "ENST00000568746.5",
"protein_id": "ENSP00000455714.1",
"transcript_support_level": 2,
"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": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "n.361+1552A>T",
"hgvs_p": null,
"transcript": "ENST00000566318.5",
"protein_id": "ENSP00000456248.1",
"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": 688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.216+1552A>T",
"hgvs_p": null,
"transcript": "XM_011545833.2",
"protein_id": "XP_011544135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 726,
"cds_start": -4,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.216+1552A>T",
"hgvs_p": null,
"transcript": "XM_047434068.1",
"protein_id": "XP_047290024.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 726,
"cds_start": -4,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.90+1552A>T",
"hgvs_p": null,
"transcript": "XM_011545834.3",
"protein_id": "XP_011544136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"dbsnp": "rs1403175217",
"frequency_reference_population": 0.000013140259,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131403,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15029051899909973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.132,
"revel_prediction": "Benign",
"alphamissense_score": 0.1485,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.376,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000418.4",
"gene_symbol": "IL4R",
"hgnc_id": 6015,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.467A>T",
"hgvs_p": "p.His156Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}