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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: 14-60734916-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=60734916&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 60734916,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000261245.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.54C>T",
"hgvs_p": "p.Ser18Ser",
"transcript": "NM_002431.4",
"protein_id": "NP_002422.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 309,
"cds_start": 54,
"cds_end": null,
"cds_length": 930,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": "ENST00000261245.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.54C>T",
"hgvs_p": "p.Ser18Ser",
"transcript": "ENST00000261245.9",
"protein_id": "ENSP00000261245.4",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 309,
"cds_start": 54,
"cds_end": null,
"cds_length": 930,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": "NM_002431.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.54C>T",
"hgvs_p": "p.Ser18Ser",
"transcript": "ENST00000539616.6",
"protein_id": "ENSP00000446437.2",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 267,
"cds_start": 54,
"cds_end": null,
"cds_length": 804,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 1220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "n.144C>T",
"hgvs_p": null,
"transcript": "ENST00000556764.5",
"protein_id": null,
"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": 1097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.54C>T",
"hgvs_p": "p.Ser18Ser",
"transcript": "NM_001177963.2",
"protein_id": "NP_001171434.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 267,
"cds_start": 54,
"cds_end": null,
"cds_length": 804,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.54C>T",
"hgvs_p": "p.Ser18Ser",
"transcript": "XM_005267688.4",
"protein_id": "XP_005267745.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 278,
"cds_start": 54,
"cds_end": null,
"cds_length": 837,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 1033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "n.138C>T",
"hgvs_p": null,
"transcript": "ENST00000553354.5",
"protein_id": null,
"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": 277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "n.175C>T",
"hgvs_p": null,
"transcript": "ENST00000555545.1",
"protein_id": null,
"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": 612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"dbsnp": "rs4151150",
"frequency_reference_population": 0.016075192,
"hom_count_reference_population": 400,
"allele_count_reference_population": 25947,
"gnomad_exomes_af": 0.0160775,
"gnomad_genomes_af": 0.0160532,
"gnomad_exomes_ac": 23503,
"gnomad_genomes_ac": 2444,
"gnomad_exomes_homalt": 360,
"gnomad_genomes_homalt": 40,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.188,
"phylop100way_prediction": "Benign",
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000261245.9",
"gene_symbol": "MNAT1",
"hgnc_id": 7181,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.54C>T",
"hgvs_p": "p.Ser18Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}