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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: 18-79988603-CGCGCGCGCTAGCGCCGTGCGTGCTGACGGCATGT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=79988603&ref=CGCGCGCGCTAGCGCCGTGCGTGCTGACGGCATGT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 79988603,
"ref": "CGCGCGCGCTAGCGCCGTGCGTGCTGACGGCATGT",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001305563.2",
"consequences": [
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "c.-60-10936_-60-10903delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "ENST00000585474.5",
"protein_id": "ENSP00000465572.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "c.-60-10936_-60-10903delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "NM_001305563.2",
"protein_id": "NP_001292492.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "c.-60-10936_-60-10903delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "NM_001305564.2",
"protein_id": "NP_001292493.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "c.-60-10936_-60-10903delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "ENST00000592957.1",
"protein_id": "ENSP00000465493.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "c.-245_-212delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "NM_006701.5",
"protein_id": "NP_006692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": "ENST00000269601.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "c.-245_-212delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "ENST00000269601.10",
"protein_id": "ENSP00000269601.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": "NM_006701.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "n.-245_-212delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "ENST00000355491.5",
"protein_id": "ENSP00000347678.4",
"transcript_support_level": 1,
"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": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "c.-245_-212delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "NM_001305557.2",
"protein_id": "NP_001292486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": -4,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "c.-511_-478delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "NM_001303471.3",
"protein_id": "NP_001290400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "c.-245_-212delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "ENST00000591711.5",
"protein_id": "ENSP00000468493.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "c.-245_-212delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "ENST00000588162.1",
"protein_id": "ENSP00000465321.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": -4,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "n.-245_-212delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "ENST00000585769.5",
"protein_id": "ENSP00000466266.1",
"transcript_support_level": 2,
"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": 988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "n.-245_-212delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "ENST00000586295.1",
"protein_id": "ENSP00000466694.1",
"transcript_support_level": 3,
"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": 706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "n.-245_-212delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "ENST00000586825.1",
"protein_id": "ENSP00000467304.1",
"transcript_support_level": 3,
"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": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "n.-74_-41delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "NR_131175.2",
"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": 3691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "n.-74_-41delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "NR_131176.2",
"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": 3542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"hgvs_c": "n.-74_-41delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null,
"transcript": "NR_131177.2",
"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": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TXNL4A",
"gene_hgnc_id": 30551,
"dbsnp": "rs786205699",
"frequency_reference_population": 0.0001277866,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.000124984,
"gnomad_genomes_af": 0.000132696,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.289,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001305563.2",
"gene_symbol": "TXNL4A",
"hgnc_id": 30551,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.-60-10936_-60-10903delACATGCCGTCAGCACGCACGGCGCTAGCGCGCGC",
"hgvs_p": null
}
],
"clinvar_disease": "Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome,TXNL4A-related disorder",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2 O:1",
"phenotype_combined": "Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome|TXNL4A-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}