← 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: 12-98515921-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=98515921&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 98515921,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001032283.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.54T>G",
"hgvs_p": "p.Ser18Arg",
"transcript": "NM_001032283.3",
"protein_id": "NP_001027454.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 454,
"cds_start": 54,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": "ENST00000556029.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.54T>G",
"hgvs_p": "p.Ser18Arg",
"transcript": "ENST00000556029.6",
"protein_id": "ENSP00000450627.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 454,
"cds_start": 54,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": "NM_001032283.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.54T>G",
"hgvs_p": "p.Ser18Arg",
"transcript": "ENST00000266732.8",
"protein_id": "ENSP00000266732.4",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 694,
"cds_start": 54,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.54T>G",
"hgvs_p": "p.Ser18Arg",
"transcript": "ENST00000393053.6",
"protein_id": "ENSP00000376773.2",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 345,
"cds_start": 54,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.54T>G",
"hgvs_p": "p.Ser18Arg",
"transcript": "ENST00000261210.9",
"protein_id": "ENSP00000261210.5",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 248,
"cds_start": 54,
"cds_end": null,
"cds_length": 747,
"cdna_start": 70,
"cdna_end": null,
"cdna_length": 820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMPO-AS1",
"gene_hgnc_id": 44158,
"hgvs_c": "n.433-24A>C",
"hgvs_p": null,
"transcript": "ENST00000548760.2",
"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": 3357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.54T>G",
"hgvs_p": "p.Ser18Arg",
"transcript": "NM_003276.2",
"protein_id": "NP_003267.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 694,
"cds_start": 54,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.54T>G",
"hgvs_p": "p.Ser18Arg",
"transcript": "ENST00000715724.1",
"protein_id": "ENSP00000520506.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 454,
"cds_start": 54,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.54T>G",
"hgvs_p": "p.Ser18Arg",
"transcript": "NM_001307975.2",
"protein_id": "NP_001294904.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 414,
"cds_start": 54,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.54T>G",
"hgvs_p": "p.Ser18Arg",
"transcript": "ENST00000343315.9",
"protein_id": "ENSP00000340251.5",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 414,
"cds_start": 54,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.54T>G",
"hgvs_p": "p.Ser18Arg",
"transcript": "NM_001032284.3",
"protein_id": "NP_001027455.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 345,
"cds_start": 54,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 3809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.54T>G",
"hgvs_p": "p.Ser18Arg",
"transcript": "XM_005269132.5",
"protein_id": "XP_005269189.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 382,
"cds_start": 54,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO-AS1",
"gene_hgnc_id": 44158,
"hgvs_c": "n.294A>C",
"hgvs_p": null,
"transcript": "ENST00000733962.1",
"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": 1998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMPO-AS1",
"gene_hgnc_id": 44158,
"hgvs_c": "n.221-24A>C",
"hgvs_p": null,
"transcript": "ENST00000546421.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 1632,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "n.155-43T>G",
"hgvs_p": null,
"transcript": "ENST00000546828.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 564,
"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": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "n.237-50T>G",
"hgvs_p": null,
"transcript": "ENST00000548911.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMPO-AS1",
"gene_hgnc_id": 44158,
"hgvs_c": "n.237-24A>C",
"hgvs_p": null,
"transcript": "NR_027157.1",
"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": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.47351178526878357,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.357,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8533,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.038,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001032283.3",
"gene_symbol": "TMPO",
"hgnc_id": 11875,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.54T>G",
"hgvs_p": "p.Ser18Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000733962.1",
"gene_symbol": "TMPO-AS1",
"hgnc_id": 44158,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.294A>C",
"hgvs_p": null
}
],
"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
}