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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: 22-37148446-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37148446&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37148446,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000216223.10",
"consequences": [
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-34+1379C>T",
"hgvs_p": null,
"transcript": "NM_000878.5",
"protein_id": "NP_000869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4034,
"mane_select": "ENST00000216223.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-34+1379C>T",
"hgvs_p": null,
"transcript": "ENST00000216223.10",
"protein_id": "ENSP00000216223.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4034,
"mane_select": "NM_000878.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-34+1379C>T",
"hgvs_p": null,
"transcript": "ENST00000698894.2",
"protein_id": "ENSP00000514013.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-33-4241C>T",
"hgvs_p": null,
"transcript": "NM_001346222.1",
"protein_id": "NP_001333151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-33-4241C>T",
"hgvs_p": null,
"transcript": "NM_001346223.2",
"protein_id": "NP_001333152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-33-4241C>T",
"hgvs_p": null,
"transcript": "ENST00000429622.6",
"protein_id": "ENSP00000402685.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-33-4241C>T",
"hgvs_p": null,
"transcript": "ENST00000445595.2",
"protein_id": "ENSP00000401020.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-33-4241C>T",
"hgvs_p": null,
"transcript": "ENST00000453962.6",
"protein_id": "ENSP00000403731.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-33-4241C>T",
"hgvs_p": null,
"transcript": "ENST00000698883.1",
"protein_id": "ENSP00000514005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-33-4241C>T",
"hgvs_p": null,
"transcript": "ENST00000698892.1",
"protein_id": "ENSP00000514011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-33-4241C>T",
"hgvs_p": null,
"transcript": "ENST00000698893.1",
"protein_id": "ENSP00000514012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4099,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-34+1379C>T",
"hgvs_p": null,
"transcript": "ENST00000698902.1",
"protein_id": "ENSP00000514017.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-34+1379C>T",
"hgvs_p": null,
"transcript": "ENST00000698903.1",
"protein_id": "ENSP00000514018.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-34+1379C>T",
"hgvs_p": null,
"transcript": "ENST00000698904.1",
"protein_id": "ENSP00000514019.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.-34+1379C>T",
"hgvs_p": null,
"transcript": "ENST00000703410.1",
"protein_id": "ENSP00000516411.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "n.98-4241C>T",
"hgvs_p": null,
"transcript": "ENST00000461607.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "n.-34+1379C>T",
"hgvs_p": null,
"transcript": "ENST00000698891.1",
"protein_id": "ENSP00000514010.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "n.-34+1379C>T",
"hgvs_p": null,
"transcript": "ENST00000698895.1",
"protein_id": "ENSP00000514014.1",
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"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "n.73+1379C>T",
"hgvs_p": null,
"transcript": "ENST00000698898.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "n.-34+1379C>T",
"hgvs_p": null,
"transcript": "ENST00000698905.1",
"protein_id": "ENSP00000514020.1",
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"cdna_length": 4017,
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"feature": null
}
],
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"dbsnp": "rs3218255",
"frequency_reference_population": 0.2070292,
"hom_count_reference_population": 3528,
"allele_count_reference_population": 31485,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.207029,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 31485,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3528,
"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": -4.321,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000216223.10",
"gene_symbol": "IL2RB",
"hgnc_id": 6009,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-34+1379C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}