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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: 16-82778949-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=82778949&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 82778949,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001257.5",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDH13",
"gene_hgnc_id": 1753,
"hgvs_c": "c.46-79413G>T",
"hgvs_p": null,
"transcript": "NM_001257.5",
"protein_id": "NP_001248.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": -4,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7876,
"mane_select": "ENST00000567109.6",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDH13",
"gene_hgnc_id": 1753,
"hgvs_c": "c.46-79413G>T",
"hgvs_p": null,
"transcript": "ENST00000567109.6",
"protein_id": "ENSP00000479395.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": -4,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7876,
"mane_select": "NM_001257.5",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CDH13",
"gene_hgnc_id": 1753,
"hgvs_c": "c.46-79413G>T",
"hgvs_p": null,
"transcript": "ENST00000431540.7",
"protein_id": "ENSP00000408632.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 190,
"cds_start": -4,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 831,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDH13",
"gene_hgnc_id": 1753,
"hgvs_c": "c.46-79413G>T",
"hgvs_p": null,
"transcript": "ENST00000567445.1",
"protein_id": "ENSP00000456297.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": -4,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1456,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260862",
"gene_hgnc_id": null,
"hgvs_c": "n.171+5460G>T",
"hgvs_p": null,
"transcript": "ENST00000567359.1",
"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": 4037,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDH13",
"gene_hgnc_id": 1753,
"hgvs_c": "c.187-79413G>T",
"hgvs_p": null,
"transcript": "NM_001220488.2",
"protein_id": "NP_001207417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": -4,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7982,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDH13",
"gene_hgnc_id": 1753,
"hgvs_c": "c.187-79413G>T",
"hgvs_p": null,
"transcript": "ENST00000268613.14",
"protein_id": "ENSP00000268613.10",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": -4,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
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"cdna_length": 2722,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDH13",
"gene_hgnc_id": 1753,
"hgvs_c": "c.46-79413G>T",
"hgvs_p": null,
"transcript": "NM_001220489.2",
"protein_id": "NP_001207418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 674,
"cds_start": -4,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7759,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDH13",
"gene_hgnc_id": 1753,
"hgvs_c": "c.46-79413G>T",
"hgvs_p": null,
"transcript": "ENST00000428848.7",
"protein_id": "ENSP00000394557.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 674,
"cds_start": -4,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDH13",
"gene_hgnc_id": 1753,
"hgvs_c": "c.-508-79413G>T",
"hgvs_p": null,
"transcript": "NM_001220490.2",
"protein_id": "NP_001207419.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 459,
"cds_start": -4,
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"cds_length": 1380,
"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "CDH13",
"gene_hgnc_id": 1753,
"hgvs_c": "c.46-79413G>T",
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"transcript": "NM_001220491.2",
"protein_id": "NP_001207420.1",
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},
{
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"intron_variant"
],
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"transcript": "NM_001220492.2",
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},
{
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"intron_variant"
],
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"gene_symbol": "CDH13",
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"transcript": "ENST00000565636.5",
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},
{
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],
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],
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},
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],
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},
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},
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],
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"gene_symbol": "CDH13",
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"hgvs_c": "n.46-79413G>T",
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"transcript": "ENST00000569144.5",
"protein_id": "ENSP00000457914.1",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "LOC101928446",
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},
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],
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"transcript": "XM_017022848.3",
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},
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],
"exon_rank": null,
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"gene_symbol": "CDH13",
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}
],
"gene_symbol": "CDH13",
"gene_hgnc_id": 1753,
"dbsnp": "rs17276565",
"frequency_reference_population": 0.079359345,
"hom_count_reference_population": 621,
"allele_count_reference_population": 12075,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0793593,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 12075,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 621,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.014,
"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": "NM_001257.5",
"gene_symbol": "CDH13",
"hgnc_id": 1753,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.46-79413G>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000567359.1",
"gene_symbol": "ENSG00000260862",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.171+5460G>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_110938.1",
"gene_symbol": "LOC101928446",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.171+5460G>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
}