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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: 11-113977879-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=113977879&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 113977879,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_213621.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3A",
"gene_hgnc_id": 5297,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "NM_000869.6",
"protein_id": "NP_000860.3",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 478,
"cds_start": 176,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000504030.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000869.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3A",
"gene_hgnc_id": 5297,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "ENST00000504030.7",
"protein_id": "ENSP00000424189.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 478,
"cds_start": 176,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000869.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504030.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3A",
"gene_hgnc_id": 5297,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Thr65Ile",
"transcript": "ENST00000375498.6",
"protein_id": "ENSP00000364648.2",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 484,
"cds_start": 194,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375498.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3A",
"gene_hgnc_id": 5297,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Thr65Ile",
"transcript": "ENST00000355556.6",
"protein_id": "ENSP00000347754.2",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 516,
"cds_start": 194,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355556.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3A",
"gene_hgnc_id": 5297,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "NM_213621.4",
"protein_id": "NP_998786.3",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 510,
"cds_start": 176,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213621.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3A",
"gene_hgnc_id": 5297,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "ENST00000506841.6",
"protein_id": "ENSP00000424776.2",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 510,
"cds_start": 176,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506841.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3A",
"gene_hgnc_id": 5297,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "ENST00000936751.1",
"protein_id": "ENSP00000606810.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 477,
"cds_start": 176,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936751.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3A",
"gene_hgnc_id": 5297,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Ile",
"transcript": "NM_001161772.3",
"protein_id": "NP_001155244.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 463,
"cds_start": 131,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161772.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3A",
"gene_hgnc_id": 5297,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Ile",
"transcript": "ENST00000299961.5",
"protein_id": "ENSP00000299961.4",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 463,
"cds_start": 131,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299961.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3A",
"gene_hgnc_id": 5297,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "ENST00000936750.1",
"protein_id": "ENSP00000606809.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 438,
"cds_start": 176,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3A",
"gene_hgnc_id": 5297,
"hgvs_c": "n.176C>T",
"hgvs_p": null,
"transcript": "ENST00000510849.5",
"protein_id": "ENSP00000423653.1",
"transcript_support_level": 2,
"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": "ENST00000510849.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3A",
"gene_hgnc_id": 5297,
"hgvs_c": "n.394C>T",
"hgvs_p": null,
"transcript": "NR_046363.2",
"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": "pseudogene",
"feature": "NR_046363.2"
}
],
"gene_symbol": "HTR3A",
"gene_hgnc_id": 5297,
"dbsnp": "rs770614768",
"frequency_reference_population": 0.0000018585173,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": 0.00000656607,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8544199466705322,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.704,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3323,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.855,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_213621.4",
"gene_symbol": "HTR3A",
"hgnc_id": 5297,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}