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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: 4-3146843-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=3146843&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 3146843,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002111.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTT",
"gene_hgnc_id": 4851,
"hgvs_c": "c.3190G>A",
"hgvs_p": "p.Val1064Ile",
"transcript": "NM_001388492.1",
"protein_id": "NP_001375421.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 3142,
"cds_start": 3190,
"cds_end": null,
"cds_length": 9429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355072.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388492.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTT",
"gene_hgnc_id": 4851,
"hgvs_c": "c.3190G>A",
"hgvs_p": "p.Val1064Ile",
"transcript": "ENST00000355072.11",
"protein_id": "ENSP00000347184.5",
"transcript_support_level": 1,
"aa_start": 1064,
"aa_end": null,
"aa_length": 3142,
"cds_start": 3190,
"cds_end": null,
"cds_length": 9429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001388492.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355072.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTT",
"gene_hgnc_id": 4851,
"hgvs_c": "n.3289G>A",
"hgvs_p": null,
"transcript": "ENST00000510626.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000510626.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTT",
"gene_hgnc_id": 4851,
"hgvs_c": "c.3190G>A",
"hgvs_p": "p.Val1064Ile",
"transcript": "NM_002111.8",
"protein_id": "NP_002102.4",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 3142,
"cds_start": 3190,
"cds_end": null,
"cds_length": 9429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002111.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTT",
"gene_hgnc_id": 4851,
"hgvs_c": "c.2932G>A",
"hgvs_p": "p.Val978Ile",
"transcript": "ENST00000681528.1",
"protein_id": "ENSP00000506116.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 3086,
"cds_start": 2932,
"cds_end": null,
"cds_length": 9261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681528.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTT",
"gene_hgnc_id": 4851,
"hgvs_c": "c.2932G>A",
"hgvs_p": "p.Val978Ile",
"transcript": "ENST00000680956.1",
"protein_id": "ENSP00000506029.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 3056,
"cds_start": 2932,
"cds_end": null,
"cds_length": 9171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTT",
"gene_hgnc_id": 4851,
"hgvs_c": "n.2932G>A",
"hgvs_p": null,
"transcript": "ENST00000680239.1",
"protein_id": "ENSP00000506169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680239.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTT",
"gene_hgnc_id": 4851,
"hgvs_c": "n.3287G>A",
"hgvs_p": null,
"transcript": "ENST00000680291.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000680291.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTT",
"gene_hgnc_id": 4851,
"hgvs_c": "n.2932G>A",
"hgvs_p": null,
"transcript": "ENST00000680360.1",
"protein_id": "ENSP00000505014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680360.1"
}
],
"gene_symbol": "HTT",
"gene_hgnc_id": 4851,
"dbsnp": "rs35892913",
"frequency_reference_population": 0.053102095,
"hom_count_reference_population": 2535,
"allele_count_reference_population": 85702,
"gnomad_exomes_af": 0.0543484,
"gnomad_genomes_af": 0.0411402,
"gnomad_exomes_ac": 79437,
"gnomad_genomes_ac": 6265,
"gnomad_exomes_homalt": 2364,
"gnomad_genomes_homalt": 171,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0027657151222229004,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.0818,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.744,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002111.8",
"gene_symbol": "HTT",
"hgnc_id": 4851,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3190G>A",
"hgvs_p": "p.Val1064Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}