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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: 12-98515894-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=98515894&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 98515894,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001032283.3",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.27G>C",
"hgvs_p": "p.Ser9Ser",
"transcript": "NM_001032283.3",
"protein_id": "NP_001027454.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 454,
"cds_start": 27,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": "ENST00000556029.6",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.27G>C",
"hgvs_p": "p.Ser9Ser",
"transcript": "ENST00000556029.6",
"protein_id": "ENSP00000450627.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 454,
"cds_start": 27,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": "NM_001032283.3",
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.27G>C",
"hgvs_p": "p.Ser9Ser",
"transcript": "ENST00000266732.8",
"protein_id": "ENSP00000266732.4",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 694,
"cds_start": 27,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 3615,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.27G>C",
"hgvs_p": "p.Ser9Ser",
"transcript": "ENST00000393053.6",
"protein_id": "ENSP00000376773.2",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 345,
"cds_start": 27,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 2374,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.27G>C",
"hgvs_p": "p.Ser9Ser",
"transcript": "ENST00000261210.9",
"protein_id": "ENSP00000261210.5",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 248,
"cds_start": 27,
"cds_end": null,
"cds_length": 747,
"cdna_start": 43,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO-AS1",
"gene_hgnc_id": 44158,
"hgvs_c": "n.436C>G",
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.27G>C",
"hgvs_p": "p.Ser9Ser",
"transcript": "NM_003276.2",
"protein_id": "NP_003267.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 694,
"cds_start": 27,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3672,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.27G>C",
"hgvs_p": "p.Ser9Ser",
"transcript": "ENST00000715724.1",
"protein_id": "ENSP00000520506.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 454,
"cds_start": 27,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 4165,
"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": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.27G>C",
"hgvs_p": "p.Ser9Ser",
"transcript": "NM_001307975.2",
"protein_id": "NP_001294904.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 414,
"cds_start": 27,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 4016,
"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": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.27G>C",
"hgvs_p": "p.Ser9Ser",
"transcript": "ENST00000343315.9",
"protein_id": "ENSP00000340251.5",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 414,
"cds_start": 27,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 2465,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.27G>C",
"hgvs_p": "p.Ser9Ser",
"transcript": "NM_001032284.3",
"protein_id": "NP_001027455.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 345,
"cds_start": 27,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 3809,
"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": "TMPO",
"gene_hgnc_id": 11875,
"hgvs_c": "c.27G>C",
"hgvs_p": "p.Ser9Ser",
"transcript": "XM_005269132.5",
"protein_id": "XP_005269189.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 382,
"cds_start": 27,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 322,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO-AS1",
"gene_hgnc_id": 44158,
"hgvs_c": "n.224C>G",
"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": 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.321C>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPO-AS1",
"gene_hgnc_id": 44158,
"hgvs_c": "n.240C>G",
"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
},
{
"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.155-70G>C",
"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.237-77G>C",
"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
}
],
"gene_symbol": "TMPO",
"gene_hgnc_id": 11875,
"dbsnp": "rs190115355",
"frequency_reference_population": 0.0000018592314,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136858,
"gnomad_genomes_af": 0.00000657022,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"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": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.96,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001032283.3",
"gene_symbol": "TMPO",
"hgnc_id": 11875,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.27G>C",
"hgvs_p": "p.Ser9Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000548760.2",
"gene_symbol": "TMPO-AS1",
"hgnc_id": 44158,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.436C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Loeys-Dietz syndrome 2",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Loeys-Dietz syndrome 2",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}