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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: 22-40177972-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=40177972&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "TNRC6B",
"hgnc_id": 29190,
"hgvs_c": "c.-164G>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001162501.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.30000001192092896,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1833,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18280,
"cdna_start": null,
"cds_end": null,
"cds_length": 5502,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001162501.2",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.-164G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000454349.7",
"protein_coding": true,
"protein_id": "NP_001155973.1",
"strand": true,
"transcript": "NM_001162501.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1833,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 18280,
"cdna_start": null,
"cds_end": null,
"cds_length": 5502,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000454349.7",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.-164G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001162501.2",
"protein_coding": true,
"protein_id": "ENSP00000401946.2",
"strand": true,
"transcript": "ENST00000454349.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1723,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17933,
"cdna_start": null,
"cds_end": null,
"cds_length": 5172,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000335727.13",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.-164G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338371.8",
"strand": true,
"transcript": "ENST00000335727.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1029,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3444,
"cdna_start": null,
"cds_end": null,
"cds_length": 3090,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000402203.5",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.113+21790G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384795.1",
"strand": true,
"transcript": "ENST00000402203.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1783,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5863,
"cdna_start": null,
"cds_end": null,
"cds_length": 5352,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000949217.1",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.-164G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619276.1",
"strand": true,
"transcript": "ENST00000949217.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1780,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5967,
"cdna_start": null,
"cds_end": null,
"cds_length": 5343,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000921024.1",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.-164G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591083.1",
"strand": true,
"transcript": "ENST00000921024.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1776,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6109,
"cdna_start": null,
"cds_end": null,
"cds_length": 5331,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000878235.1",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.-164G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548294.1",
"strand": true,
"transcript": "ENST00000878235.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1723,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17950,
"cdna_start": null,
"cds_end": null,
"cds_length": 5172,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_015088.3",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.-164G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055903.2",
"strand": true,
"transcript": "NM_015088.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1664,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5773,
"cdna_start": null,
"cds_end": null,
"cds_length": 4995,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000921023.1",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.-164G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591082.1",
"strand": true,
"transcript": "ENST00000921023.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 993,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3715,
"cdna_start": null,
"cds_end": null,
"cds_length": 2982,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000878236.1",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.-164G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548295.1",
"strand": true,
"transcript": "ENST00000878236.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 940,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": null,
"cds_end": null,
"cds_length": 2823,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000878237.1",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.-164G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548296.1",
"strand": true,
"transcript": "ENST00000878237.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 826,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": null,
"cds_end": null,
"cds_length": 2481,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000921025.1",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.-164G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591084.1",
"strand": true,
"transcript": "ENST00000921025.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1029,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15942,
"cdna_start": null,
"cds_end": null,
"cds_length": 3090,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001024843.2",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.113+21790G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020014.1",
"strand": true,
"transcript": "NM_001024843.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1029,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15958,
"cdna_start": null,
"cds_end": null,
"cds_length": 3090,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000301923.13",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "c.113+21790G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000306759.9",
"strand": true,
"transcript": "ENST00000301923.13",
"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": 564,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000489500.1",
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"hgvs_c": "n.48G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000489500.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1168559950",
"effect": "5_prime_UTR_variant",
"frequency_reference_population": 0.0000054334096,
"gene_hgnc_id": 29190,
"gene_symbol": "TNRC6B",
"gnomad_exomes_ac": 6,
"gnomad_exomes_af": 0.00000454475,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131435,
"gnomad_genomes_homalt": 0,
"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": "Uncertain_significance",
"phylop100way_score": 6.406,
"pos": 40177972,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001162501.2"
}
]
}