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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: 11-121137919-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=121137919&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 121137919,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000392793.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECTA",
"gene_hgnc_id": 11720,
"hgvs_c": "c.3440A>G",
"hgvs_p": "p.Asn1147Ser",
"transcript": "NM_005422.4",
"protein_id": "NP_005413.2",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 2155,
"cds_start": 3440,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 7353,
"mane_select": "ENST00000392793.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECTA",
"gene_hgnc_id": 11720,
"hgvs_c": "c.3440A>G",
"hgvs_p": "p.Asn1147Ser",
"transcript": "ENST00000392793.6",
"protein_id": "ENSP00000376543.1",
"transcript_support_level": 5,
"aa_start": 1147,
"aa_end": null,
"aa_length": 2155,
"cds_start": 3440,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 7353,
"mane_select": "NM_005422.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECTA",
"gene_hgnc_id": 11720,
"hgvs_c": "c.3440A>G",
"hgvs_p": "p.Asn1147Ser",
"transcript": "ENST00000264037.2",
"protein_id": "ENSP00000264037.2",
"transcript_support_level": 1,
"aa_start": 1147,
"aa_end": null,
"aa_length": 2155,
"cds_start": 3440,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 3440,
"cdna_end": null,
"cdna_length": 6468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL-TECTA",
"gene_hgnc_id": 54857,
"hgvs_c": "c.4397A>G",
"hgvs_p": "p.Asn1466Ser",
"transcript": "NM_001378761.1",
"protein_id": "NP_001365690.1",
"transcript_support_level": null,
"aa_start": 1466,
"aa_end": null,
"aa_length": 2469,
"cds_start": 4397,
"cds_end": null,
"cds_length": 7410,
"cdna_start": 4604,
"cdna_end": null,
"cdna_length": 8301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECTA",
"gene_hgnc_id": 11720,
"hgvs_c": "c.3440A>G",
"hgvs_p": "p.Asn1147Ser",
"transcript": "ENST00000642222.1",
"protein_id": "ENSP00000493855.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 2150,
"cds_start": 3440,
"cds_end": null,
"cds_length": 6453,
"cdna_start": 3505,
"cdna_end": null,
"cdna_length": 7162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECTA",
"gene_hgnc_id": 11720,
"hgvs_c": "c.746A>G",
"hgvs_p": "p.Asn249Ser",
"transcript": "ENST00000645008.1",
"protein_id": "ENSP00000496274.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1328,
"cds_start": 746,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TECTA",
"gene_hgnc_id": 11720,
"dbsnp": "rs1184726805",
"frequency_reference_population": 0.0000013774977,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013775,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4446186423301697,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.196,
"revel_prediction": "Benign",
"alphamissense_score": 0.1568,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.288,
"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": 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": "ENST00000392793.6",
"gene_symbol": "TECTA",
"hgnc_id": 11720,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3440A>G",
"hgvs_p": "p.Asn1147Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001378761.1",
"gene_symbol": "TBCEL-TECTA",
"hgnc_id": 54857,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4397A>G",
"hgvs_p": "p.Asn1466Ser"
}
],
"clinvar_disease": "Inborn genetic diseases,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}