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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: 11-121102653-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=121102653&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 121102653,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001378761.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TECTA",
"gene_hgnc_id": 11720,
"hgvs_c": "c.-1-12T>C",
"hgvs_p": null,
"transcript": "NM_005422.4",
"protein_id": "NP_005413.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2155,
"cds_start": null,
"cds_end": null,
"cds_length": 6468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392793.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005422.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TECTA",
"gene_hgnc_id": 11720,
"hgvs_c": "c.-1-12T>C",
"hgvs_p": null,
"transcript": "ENST00000392793.6",
"protein_id": "ENSP00000376543.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2155,
"cds_start": null,
"cds_end": null,
"cds_length": 6468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005422.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392793.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TBCEL-TECTA",
"gene_hgnc_id": 54857,
"hgvs_c": "c.909-12T>C",
"hgvs_p": null,
"transcript": "ENST00000645041.1",
"protein_id": "ENSP00000496315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645041.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TBCEL-TECTA",
"gene_hgnc_id": 54857,
"hgvs_c": "c.957-12T>C",
"hgvs_p": null,
"transcript": "NM_001378761.1",
"protein_id": "NP_001365690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2469,
"cds_start": null,
"cds_end": null,
"cds_length": 7410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378761.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TECTA",
"gene_hgnc_id": 11720,
"hgvs_c": "c.-1-12T>C",
"hgvs_p": null,
"transcript": "ENST00000642222.1",
"protein_id": "ENSP00000493855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2150,
"cds_start": null,
"cds_end": null,
"cds_length": 6453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642222.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TBCEL-TECTA",
"gene_hgnc_id": 54857,
"hgvs_c": "n.1141-12T>C",
"hgvs_p": null,
"transcript": "ENST00000644541.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000644541.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECTA",
"gene_hgnc_id": 11720,
"hgvs_c": "c.-13T>C",
"hgvs_p": null,
"transcript": "ENST00000264037.2",
"protein_id": "ENSP00000264037.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2155,
"cds_start": null,
"cds_end": null,
"cds_length": 6468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264037.2"
}
],
"gene_symbol": "TBCEL-TECTA",
"gene_hgnc_id": 54857,
"dbsnp": "rs145916279",
"frequency_reference_population": 0.004896435,
"hom_count_reference_population": 33,
"allele_count_reference_population": 7888,
"gnomad_exomes_af": 0.0050485,
"gnomad_genomes_af": 0.00344022,
"gnomad_exomes_ac": 7364,
"gnomad_genomes_ac": 524,
"gnomad_exomes_homalt": 32,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.23000000417232513,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.39800000190734863,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.141,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.534245006597748,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001378761.1",
"gene_symbol": "TBCEL-TECTA",
"hgnc_id": 54857,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.957-12T>C",
"hgvs_p": null
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005422.4",
"gene_symbol": "TECTA",
"hgnc_id": 11720,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.-1-12T>C",
"hgvs_p": null
}
],
"clinvar_disease": " Dominant, autosomal recessive,Hearing loss,Nonsyndromic Hearing Loss,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"phenotype_combined": "not specified|Nonsyndromic Hearing Loss, Dominant|not provided|Hearing loss, autosomal recessive",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}