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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: 17-35690325-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35690325&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35690325,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000610402.5",
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2454+7501A>G",
"hgvs_p": null,
"transcript": "NM_001030006.2",
"protein_id": "NP_001025177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": -4,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5700,
"mane_select": "ENST00000610402.5",
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2454+7501A>G",
"hgvs_p": null,
"transcript": "ENST00000610402.5",
"protein_id": "ENSP00000483185.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": -4,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5700,
"mane_select": "NM_001030006.2",
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2454+7501A>G",
"hgvs_p": null,
"transcript": "ENST00000618940.4",
"protein_id": "ENSP00000482835.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": -4,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3415,
"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": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2412+7501A>G",
"hgvs_p": null,
"transcript": "ENST00000621914.4",
"protein_id": "ENSP00000482315.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": -4,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5702,
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.*423+7501A>G",
"hgvs_p": null,
"transcript": "ENST00000612116.5",
"protein_id": "ENSP00000478115.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": -4,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3483,
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "n.*2348+7501A>G",
"hgvs_p": null,
"transcript": "ENST00000620039.4",
"protein_id": "ENSP00000481246.1",
"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": 3428,
"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": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2412+7501A>G",
"hgvs_p": null,
"transcript": "NM_001282.3",
"protein_id": "NP_001273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": -4,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5658,
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2340+7501A>G",
"hgvs_p": null,
"transcript": "ENST00000616681.4",
"protein_id": "ENSP00000484708.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3267,
"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": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2454+7501A>G",
"hgvs_p": null,
"transcript": "XM_011524448.3",
"protein_id": "XP_011522750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 983,
"cds_start": -4,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5796,
"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": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2454+7501A>G",
"hgvs_p": null,
"transcript": "XM_011524449.4",
"protein_id": "XP_011522751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 983,
"cds_start": -4,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5965,
"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": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2454+7501A>G",
"hgvs_p": null,
"transcript": "XM_011524450.3",
"protein_id": "XP_011522752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 983,
"cds_start": -4,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6031,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2412+7501A>G",
"hgvs_p": null,
"transcript": "XM_011524451.3",
"protein_id": "XP_011522753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5754,
"mane_select": null,
"mane_plus": null,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2412+7501A>G",
"hgvs_p": null,
"transcript": "XM_047435508.1",
"protein_id": "XP_047291464.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 969,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2412+7501A>G",
"hgvs_p": null,
"transcript": "XM_047435509.1",
"protein_id": "XP_047291465.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 969,
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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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2454+7501A>G",
"hgvs_p": null,
"transcript": "XM_005257937.5",
"protein_id": "XP_005257994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": -4,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
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"cdna_length": 5869,
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2454+7501A>G",
"hgvs_p": null,
"transcript": "XM_005257938.4",
"protein_id": "XP_005257995.1",
"transcript_support_level": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2412+7501A>G",
"hgvs_p": null,
"transcript": "XM_017024284.3",
"protein_id": "XP_016879773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2412+7501A>G",
"hgvs_p": null,
"transcript": "XM_047435510.1",
"protein_id": "XP_047291466.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 937,
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"cdna_start": null,
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"cdna_length": 5893,
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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": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"hgvs_c": "c.2283+7501A>G",
"hgvs_p": null,
"transcript": "XM_047435511.1",
"protein_id": "XP_047291467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": -4,
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"cds_length": 2781,
"cdna_start": null,
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"cdna_length": 5620,
"mane_select": null,
"mane_plus": null,
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"feature": null
}
],
"gene_symbol": "AP2B1",
"gene_hgnc_id": 563,
"dbsnp": "rs226088",
"frequency_reference_population": 0.35718325,
"hom_count_reference_population": 9897,
"allele_count_reference_population": 54304,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.357183,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 54304,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 9897,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"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": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.114,
"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": "ENST00000610402.5",
"gene_symbol": "AP2B1",
"hgnc_id": 563,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2454+7501A>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
}