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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: 18-31595124-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31595124&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 31595124,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000371.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Thr69Pro",
"transcript": "NM_000371.4",
"protein_id": "NP_000362.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 147,
"cds_start": 205,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000237014.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000371.4"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Thr69Pro",
"transcript": "ENST00000237014.8",
"protein_id": "ENSP00000237014.4",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 147,
"cds_start": 205,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000371.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000237014.8"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Thr69Pro",
"transcript": "ENST00000649620.1",
"protein_id": "ENSP00000497927.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 147,
"cds_start": 205,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649620.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Thr69Pro",
"transcript": "ENST00000858988.1",
"protein_id": "ENSP00000529047.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 147,
"cds_start": 205,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858988.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Thr69Pro",
"transcript": "ENST00000858989.1",
"protein_id": "ENSP00000529048.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 147,
"cds_start": 205,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858989.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Thr69Pro",
"transcript": "ENST00000858990.1",
"protein_id": "ENSP00000529049.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 147,
"cds_start": 205,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858990.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Thr69Pro",
"transcript": "ENST00000858991.1",
"protein_id": "ENSP00000529050.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 147,
"cds_start": 205,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858991.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.109A>C",
"hgvs_p": "p.Thr37Pro",
"transcript": "ENST00000610404.5",
"protein_id": "ENSP00000477599.2",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 115,
"cds_start": 109,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610404.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "c.201-5A>C",
"hgvs_p": null,
"transcript": "ENST00000858992.1",
"protein_id": "ENSP00000529051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858992.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"hgvs_c": "n.231A>C",
"hgvs_p": null,
"transcript": "ENST00000541025.2",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000541025.2"
}
],
"gene_symbol": "TTR",
"gene_hgnc_id": 12405,
"dbsnp": "rs121918081",
"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": 0.9873697757720947,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.974,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7429,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.357,
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000371.4",
"gene_symbol": "TTR",
"hgnc_id": 12405,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Thr69Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}