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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: 11-108301637-GT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108301637&ref=GT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ATM",
"hgnc_id": 795,
"hgvs_c": "c.",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000452508.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12915,
"cdna_start": null,
"cds_end": null,
"cds_length": 9171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675843.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000051.4",
"protein_coding": true,
"protein_id": "ENSP00000501606.1",
"strand": true,
"transcript": "ENST00000675843.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13247,
"cdna_start": null,
"cds_end": null,
"cds_length": 9171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452508.7",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 35,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388058.2",
"strand": true,
"transcript": "ENST00000452508.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9287,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 61,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527805.6",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435747.2",
"strand": true,
"transcript": "ENST00000527805.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11233,
"cdna_start": null,
"cds_end": null,
"cds_length": 9171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000278616.10",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000278616.4",
"strand": true,
"transcript": "ENST00000278616.10",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14216,
"cdna_start": null,
"cds_end": null,
"cds_length": 9171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000601453.3",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 35,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469471.2",
"strand": true,
"transcript": "ENST00000601453.3",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9550,
"cdna_start": null,
"cds_end": null,
"cds_length": 9171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713844.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 35,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519149.1",
"strand": true,
"transcript": "ENST00000713844.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3003,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9692,
"cdna_start": null,
"cds_end": null,
"cds_length": 9012,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 62,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971291.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641350.1",
"strand": true,
"transcript": "ENST00000971291.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2984,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12686,
"cdna_start": null,
"cds_end": null,
"cds_length": 8955,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 61,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923922.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593981.1",
"strand": true,
"transcript": "ENST00000923922.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": null,
"canonical": null,
"cdna_end": null,
"cdna_length": null,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intragenic_variant"
],
"exon_count": null,
"exon_rank": null,
"exon_rank_end": null,
"feature": null,
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": null,
"protein_id": null,
"strand": true,
"transcript": null,
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5912,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000524792.5",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000524792.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 12827,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 62,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000529588.6",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435524.2",
"strand": true,
"transcript": "ENST00000529588.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3354,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533690.5",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000533690.5",
"transcript_support_level": 5
},
{
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9309,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 62,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675595.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
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"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502563.1",
"strand": true,
"transcript": "ENST00000675595.1",
"transcript_support_level": null
},
{
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"biotype": "nonsense_mediated_decay",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683174.2",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519136.1",
"strand": true,
"transcript": "ENST00000683174.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6870,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683524.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000683524.1",
"transcript_support_level": null
},
{
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7062,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684152.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000684152.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 12893,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713593.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518889.1",
"strand": true,
"transcript": "ENST00000713593.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
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"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9933,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713840.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000519145.1",
"strand": true,
"transcript": "ENST00000713840.1",
"transcript_support_level": null
},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 64,
"exon_rank": null,
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"feature": "ENST00000713841.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519146.1",
"strand": true,
"transcript": "ENST00000713841.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 11758,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713842.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000519147.1",
"strand": true,
"transcript": "ENST00000713842.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 13126,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713843.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519148.1",
"strand": true,
"transcript": "ENST00000713843.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "intron_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.491,
"pos": 108301636,
"ref": "TG",
"revel_prediction": null,
"revel_score": null,
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