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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: 16-27342268-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27342268&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 27342268,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_000418.4",
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.209+9G>C",
"hgvs_p": null,
"transcript": "NM_000418.4",
"protein_id": "NP_000409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "ENST00000395762.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.209+9G>C",
"hgvs_p": null,
"transcript": "ENST00000395762.7",
"protein_id": "ENSP00000379111.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "NM_000418.4",
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.209+9G>C",
"hgvs_p": null,
"transcript": "ENST00000543915.6",
"protein_id": "ENSP00000441667.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3539,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.209+9G>C",
"hgvs_p": null,
"transcript": "NM_001257406.2",
"protein_id": "NP_001244335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3491,
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.164+9G>C",
"hgvs_p": null,
"transcript": "NM_001257407.2",
"protein_id": "NP_001244336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 810,
"cds_start": -4,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3735,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.164+9G>C",
"hgvs_p": null,
"transcript": "ENST00000170630.6",
"protein_id": "ENSP00000170630.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 810,
"cds_start": -4,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3380,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.-267+9G>C",
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.209+9G>C",
"hgvs_p": null,
"transcript": "ENST00000563002.5",
"protein_id": "ENSP00000456930.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": -4,
"cds_end": null,
"cds_length": 361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 541,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.209+9G>C",
"hgvs_p": null,
"transcript": "ENST00000566117.5",
"protein_id": "ENSP00000455632.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": -4,
"cds_end": null,
"cds_length": 361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 529,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "n.389+9G>C",
"hgvs_p": null,
"transcript": "ENST00000561946.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "n.530+9G>C",
"hgvs_p": null,
"transcript": "ENST00000563787.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "IL4R",
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"hgvs_c": "n.229+9G>C",
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"transcript": "ENST00000565696.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "IL4R",
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"hgvs_c": "n.209+9G>C",
"hgvs_p": null,
"transcript": "ENST00000566318.5",
"protein_id": "ENSP00000456248.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "IL4R",
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"hgvs_c": "n.*252+9G>C",
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"transcript": "ENST00000568746.5",
"protein_id": "ENSP00000455714.1",
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},
{
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],
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"gene_symbol": "IL4R",
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"hgvs_c": "c.284+9G>C",
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"transcript": "XM_047434066.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
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"gene_symbol": "IL4R",
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"hgvs_c": "c.209+9G>C",
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"transcript": "XM_011545825.2",
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},
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],
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"transcript": "XM_011545826.3",
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},
{
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],
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"intron_rank": 4,
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"gene_symbol": "IL4R",
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"hgvs_c": "c.209+9G>C",
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"transcript": "XM_011545827.3",
"protein_id": "XP_011544129.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 4,
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"gene_symbol": "IL4R",
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"hgvs_c": "c.209+9G>C",
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"transcript": "XM_047434067.1",
"protein_id": "XP_047290023.1",
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],
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],
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "IL4R",
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"hgvs_c": "c.64+9G>C",
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"transcript": "XM_047434068.1",
"protein_id": "XP_047290024.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.-131+9G>C",
"hgvs_p": null,
"transcript": "XM_011545834.3",
"protein_id": "XP_011544136.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.209+9G>C",
"hgvs_p": null,
"transcript": "XM_017023211.2",
"protein_id": "XP_016878700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"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": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*27G>C",
"hgvs_p": null,
"transcript": "ENST00000562142.5",
"protein_id": "ENSP00000457131.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "n.*261G>C",
"hgvs_p": null,
"transcript": "ENST00000563926.5",
"protein_id": "ENSP00000454684.1",
"transcript_support_level": 4,
"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": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"dbsnp": "rs141204698",
"frequency_reference_population": 0.0014106531,
"hom_count_reference_population": 28,
"allele_count_reference_population": 2277,
"gnomad_exomes_af": 0.000796275,
"gnomad_genomes_af": 0.00730603,
"gnomad_exomes_ac": 1164,
"gnomad_genomes_ac": 1113,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_homalt": 16,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.318,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000418.4",
"gene_symbol": "IL4R",
"hgnc_id": 6015,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.209+9G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}