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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: 6-166162494-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=166162494&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 166162494,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001366285.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXT",
"gene_hgnc_id": 11515,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Arg287Pro",
"transcript": "NM_001366285.2",
"protein_id": "NP_001353214.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 436,
"cds_start": 860,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366876.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366285.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXT",
"gene_hgnc_id": 11515,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Arg287Pro",
"transcript": "ENST00000366876.7",
"protein_id": "ENSP00000355841.3",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 436,
"cds_start": 860,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366285.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366876.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TBXT",
"gene_hgnc_id": 11515,
"hgvs_c": "c.731-1528G>C",
"hgvs_p": null,
"transcript": "ENST00000366871.7",
"protein_id": "ENSP00000355836.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366871.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXT",
"gene_hgnc_id": 11515,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Arg287Pro",
"transcript": "NM_001366286.2",
"protein_id": "NP_001353215.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 436,
"cds_start": 860,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366286.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXT",
"gene_hgnc_id": 11515,
"hgvs_c": "c.857G>C",
"hgvs_p": "p.Arg286Pro",
"transcript": "NM_003181.4",
"protein_id": "NP_003172.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 435,
"cds_start": 857,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003181.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXT",
"gene_hgnc_id": 11515,
"hgvs_c": "c.857G>C",
"hgvs_p": "p.Arg286Pro",
"transcript": "ENST00000296946.6",
"protein_id": "ENSP00000296946.2",
"transcript_support_level": 5,
"aa_start": 286,
"aa_end": null,
"aa_length": 435,
"cds_start": 857,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296946.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXT",
"gene_hgnc_id": 11515,
"hgvs_c": "c.857G>C",
"hgvs_p": "p.Arg286Pro",
"transcript": "ENST00000922033.1",
"protein_id": "ENSP00000592092.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 435,
"cds_start": 857,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922033.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXT",
"gene_hgnc_id": 11515,
"hgvs_c": "c.857G>C",
"hgvs_p": "p.Arg286Pro",
"transcript": "XM_047419269.1",
"protein_id": "XP_047275225.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 435,
"cds_start": 857,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TBXT",
"gene_hgnc_id": 11515,
"hgvs_c": "c.731-1528G>C",
"hgvs_p": null,
"transcript": "NM_001270484.2",
"protein_id": "NP_001257413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270484.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TBXT",
"gene_hgnc_id": 11515,
"hgvs_c": "c.731-1528G>C",
"hgvs_p": null,
"transcript": "ENST00000922034.1",
"protein_id": "ENSP00000592093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922034.1"
}
],
"gene_symbol": "TBXT",
"gene_hgnc_id": 11515,
"dbsnp": "rs527987217",
"frequency_reference_population": 0.0000065749678,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657497,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.731907069683075,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.652,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4856,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.27,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001366285.2",
"gene_symbol": "TBXT",
"hgnc_id": 11515,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Arg287Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}