← Back to variant description
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: 14-60818794-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=60818794&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 60818794,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002431.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Phe",
"transcript": "NM_002431.4",
"protein_id": "NP_002422.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 309,
"cds_start": 634,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261245.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002431.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Phe",
"transcript": "ENST00000261245.9",
"protein_id": "ENSP00000261245.4",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 309,
"cds_start": 634,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002431.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261245.9"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.561+6667C>T",
"hgvs_p": null,
"transcript": "ENST00000539616.6",
"protein_id": "ENSP00000446437.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": null,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539616.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Leu211Phe",
"transcript": "ENST00000931367.1",
"protein_id": "ENSP00000601426.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 329,
"cds_start": 631,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931367.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Leu211Phe",
"transcript": "ENST00000960001.1",
"protein_id": "ENSP00000630060.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 308,
"cds_start": 631,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960001.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Leu207Phe",
"transcript": "ENST00000931365.1",
"protein_id": "ENSP00000601424.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 304,
"cds_start": 619,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931365.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000959999.1",
"protein_id": "ENSP00000630058.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 296,
"cds_start": 595,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959999.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Leu161Phe",
"transcript": "ENST00000960000.1",
"protein_id": "ENSP00000630059.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 258,
"cds_start": 481,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960000.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Leu107Phe",
"transcript": "ENST00000554002.5",
"protein_id": "ENSP00000451379.1",
"transcript_support_level": 3,
"aa_start": 107,
"aa_end": null,
"aa_length": 173,
"cds_start": 319,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554002.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Leu72Phe",
"transcript": "ENST00000557134.1",
"protein_id": "ENSP00000451017.1",
"transcript_support_level": 3,
"aa_start": 72,
"aa_end": null,
"aa_length": 169,
"cds_start": 214,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557134.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Leu197Phe",
"transcript": "XM_017021332.3",
"protein_id": "XP_016876821.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 294,
"cds_start": 589,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021332.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Phe",
"transcript": "XM_005267688.4",
"protein_id": "XP_005267745.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 278,
"cds_start": 634,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267688.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Leu91Phe",
"transcript": "XM_017021334.3",
"protein_id": "XP_016876823.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 188,
"cds_start": 271,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021334.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Leu91Phe",
"transcript": "XM_047431413.1",
"protein_id": "XP_047287369.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 188,
"cds_start": 271,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431413.1"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.561+6667C>T",
"hgvs_p": null,
"transcript": "NM_001177963.2",
"protein_id": "NP_001171434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": null,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177963.2"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "c.420+10366C>T",
"hgvs_p": null,
"transcript": "ENST00000931366.1",
"protein_id": "ENSP00000601425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931366.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "n.215C>T",
"hgvs_p": null,
"transcript": "ENST00000554641.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000554641.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"hgvs_c": "n.403C>T",
"hgvs_p": null,
"transcript": "ENST00000556525.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000556525.1"
}
],
"gene_symbol": "MNAT1",
"gene_hgnc_id": 7181,
"dbsnp": "rs368804790",
"frequency_reference_population": 0.000009920918,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000547684,
"gnomad_genomes_af": 0.0000526115,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10053795576095581,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.0944,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.916,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002431.4",
"gene_symbol": "MNAT1",
"hgnc_id": 7181,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}