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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: 18-31598622-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31598622&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 31598622,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000237014.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Leu131Leu",
"transcript": "NM_000371.4",
"protein_id": "NP_000362.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 147,
"cds_start": 391,
"cds_end": null,
"cds_length": 444,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 616,
"mane_select": "ENST00000237014.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Leu131Leu",
"transcript": "ENST00000237014.8",
"protein_id": "ENSP00000237014.4",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 147,
"cds_start": 391,
"cds_end": null,
"cds_length": 444,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 616,
"mane_select": "NM_000371.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Leu131Leu",
"transcript": "ENST00000649620.1",
"protein_id": "ENSP00000497927.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 147,
"cds_start": 391,
"cds_end": null,
"cds_length": 444,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Leu99Leu",
"transcript": "ENST00000610404.5",
"protein_id": "ENSP00000477599.2",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 115,
"cds_start": 295,
"cds_end": null,
"cds_length": 348,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294516",
"gene_hgnc_id": null,
"hgvs_c": "n.286-2927G>A",
"hgvs_p": null,
"transcript": "ENST00000724044.1",
"protein_id": null,
"transcript_support_level": null,
"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": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124904277",
"gene_hgnc_id": null,
"hgvs_c": "n.129-2927G>A",
"hgvs_p": null,
"transcript": "XR_007066326.1",
"protein_id": null,
"transcript_support_level": null,
"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": 246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"dbsnp": "rs121918073",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3400000035762787,
"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": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.607,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000237014.8",
"gene_symbol": "TTR",
"hgnc_id": 12405,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Leu131Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000724044.1",
"gene_symbol": "ENSG00000294516",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.286-2927G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007066326.1",
"gene_symbol": "LOC124904277",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.129-2927G>A",
"hgvs_p": null
}
],
"clinvar_disease": " hereditary systemic 1,Amyloidosis",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Amyloidosis, hereditary systemic 1",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}