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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: 14-75980543-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75980543&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75980543,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000238682.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.His117Gln",
"transcript": "NM_003239.5",
"protein_id": "NP_003230.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 412,
"cds_start": 351,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": "ENST00000238682.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.His117Gln",
"transcript": "ENST00000238682.8",
"protein_id": "ENSP00000238682.3",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 412,
"cds_start": 351,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": "NM_003239.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.His117Gln",
"transcript": "ENST00000556285.1",
"protein_id": "ENSP00000451110.1",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 309,
"cds_start": 351,
"cds_end": null,
"cds_length": 930,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.His117Gln",
"transcript": "NM_001329939.2",
"protein_id": "NP_001316868.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 412,
"cds_start": 351,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.His117Gln",
"transcript": "ENST00000556674.2",
"protein_id": "ENSP00000502685.1",
"transcript_support_level": 3,
"aa_start": 117,
"aa_end": null,
"aa_length": 412,
"cds_start": 351,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.His117Gln",
"transcript": "NM_001329938.2",
"protein_id": "NP_001316867.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 309,
"cds_start": 351,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFT43",
"gene_hgnc_id": 29669,
"hgvs_c": "n.90-8342G>C",
"hgvs_p": null,
"transcript": "ENST00000555677.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.*33C>G",
"hgvs_p": null,
"transcript": "ENST00000555193.1",
"protein_id": "ENSP00000502307.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"dbsnp": "rs375232060",
"frequency_reference_population": 0.00000136812,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136812,
"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": 0.3172023296356201,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07400000095367432,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.1229,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.231,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0083855750028242,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000238682.8",
"gene_symbol": "TGFB3",
"hgnc_id": 11769,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.351C>G",
"hgvs_p": "p.His117Gln"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555677.5",
"gene_symbol": "IFT43",
"hgnc_id": 29669,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "n.90-8342G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Familial thoracic aortic aneurysm and aortic dissection",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}