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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: 17-42309656-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42309656&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42309656,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000590949.6",
"consequences": [
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "n.992A>G",
"hgvs_p": null,
"transcript": "ENST00000587646.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 3239,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2222+172A>G",
"hgvs_p": null,
"transcript": "NM_001288718.2",
"protein_id": "NP_001275647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": -4,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": "ENST00000590949.6",
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2222+172A>G",
"hgvs_p": null,
"transcript": "ENST00000590949.6",
"protein_id": "ENSP00000468749.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": -4,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": "NM_001288718.2",
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2222+172A>G",
"hgvs_p": null,
"transcript": "ENST00000345506.8",
"protein_id": "ENSP00000341208.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": -4,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4301,
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2132+172A>G",
"hgvs_p": null,
"transcript": "ENST00000546010.6",
"protein_id": "ENSP00000443107.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3086,
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2129+172A>G",
"hgvs_p": null,
"transcript": "ENST00000588868.5",
"protein_id": "ENSP00000465437.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 763,
"cds_start": -4,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3629,
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2222+172A>G",
"hgvs_p": null,
"transcript": "NM_003152.4",
"protein_id": "NP_003143.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": -4,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4301,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2222+172A>G",
"hgvs_p": null,
"transcript": "ENST00000676585.1",
"protein_id": "ENSP00000504449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": -4,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3799,
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2222+172A>G",
"hgvs_p": null,
"transcript": "ENST00000677301.1",
"protein_id": "ENSP00000503262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": -4,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3858,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2216+172A>G",
"hgvs_p": null,
"transcript": "ENST00000677893.1",
"protein_id": "ENSP00000504833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3801,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2171+172A>G",
"hgvs_p": null,
"transcript": "ENST00000678903.1",
"protein_id": "ENSP00000503304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 777,
"cds_start": -4,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3725,
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2132+172A>G",
"hgvs_p": null,
"transcript": "NM_001288719.2",
"protein_id": "NP_001275648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
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"cdna_length": 3680,
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2129+172A>G",
"hgvs_p": null,
"transcript": "NM_001288720.2",
"protein_id": "NP_001275649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 763,
"cds_start": -4,
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"cds_length": 2292,
"cdna_start": null,
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"cdna_length": 3677,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2063-851A>G",
"hgvs_p": null,
"transcript": "NM_001411103.1",
"protein_id": "NP_001398032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2063-851A>G",
"hgvs_p": null,
"transcript": "ENST00000676631.1",
"protein_id": "ENSP00000503484.1",
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.1814+172A>G",
"hgvs_p": null,
"transcript": "ENST00000590726.7",
"protein_id": "ENSP00000464730.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "n.876+172A>G",
"hgvs_p": null,
"transcript": "ENST00000468096.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2222+172A>G",
"hgvs_p": null,
"transcript": "XM_047436588.1",
"protein_id": "XP_047292544.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 794,
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"cdna_start": null,
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"cdna_length": 4242,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.2222+172A>G",
"hgvs_p": null,
"transcript": "XM_047436589.1",
"protein_id": "XP_047292545.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
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"hgvs_c": "c.2132+172A>G",
"hgvs_p": null,
"transcript": "XM_047436590.1",
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"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"hgvs_c": "c.1973-851A>G",
"hgvs_p": null,
"transcript": "XM_047436591.1",
"protein_id": "XP_047292547.1",
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"cdna_start": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "STAT5A",
"gene_hgnc_id": 11366,
"dbsnp": "rs12601982",
"frequency_reference_population": 0.19869952,
"hom_count_reference_population": 13786,
"allele_count_reference_population": 124370,
"gnomad_exomes_af": 0.197657,
"gnomad_genomes_af": 0.201945,
"gnomad_exomes_ac": 93640,
"gnomad_genomes_ac": 30730,
"gnomad_exomes_homalt": 10373,
"gnomad_genomes_homalt": 3413,
"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": -1.716,
"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": "ENST00000590949.6",
"gene_symbol": "STAT5A",
"hgnc_id": 11366,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2222+172A>G",
"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
}