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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: 8-63065925-CT-ACTTAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=63065925&ref=CT&alt=ACTTAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 63065925,
"ref": "CT",
"alt": "ACTTAC",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_001413418.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "SK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.530_531delAGinsGTAAGT",
"hgvs_p": "p.Lys177fs",
"transcript": "NM_000370.3",
"protein_id": "NP_000361.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 530,
"cds_end": null,
"cds_length": 837,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": "ENST00000260116.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000370.3"
},
{
"aa_ref": "K",
"aa_alt": "SK?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.530_531delAGinsGTAAGT",
"hgvs_p": "p.Lys177fs",
"transcript": "ENST00000260116.5",
"protein_id": "ENSP00000260116.4",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 278,
"cds_start": 530,
"cds_end": null,
"cds_length": 837,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": "NM_000370.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260116.5"
},
{
"aa_ref": "K",
"aa_alt": "SK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.647_648delAGinsGTAAGT",
"hgvs_p": "p.Lys216fs",
"transcript": "NM_001413418.1",
"protein_id": "NP_001400347.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 317,
"cds_start": 647,
"cds_end": null,
"cds_length": 954,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413418.1"
},
{
"aa_ref": "K",
"aa_alt": "SK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.647_648delAGinsGTAAGT",
"hgvs_p": "p.Lys216fs",
"transcript": "ENST00000878696.1",
"protein_id": "ENSP00000548755.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 317,
"cds_start": 647,
"cds_end": null,
"cds_length": 954,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878696.1"
},
{
"aa_ref": "K",
"aa_alt": "SK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.530_531delAGinsGTAAGT",
"hgvs_p": "p.Lys177fs",
"transcript": "NM_001413416.1",
"protein_id": "NP_001400345.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 282,
"cds_start": 530,
"cds_end": null,
"cds_length": 849,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413416.1"
},
{
"aa_ref": "K",
"aa_alt": "SK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.530_531delAGinsGTAAGT",
"hgvs_p": "p.Lys177fs",
"transcript": "ENST00000878697.1",
"protein_id": "ENSP00000548756.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 241,
"cds_start": 530,
"cds_end": null,
"cds_length": 726,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878697.1"
},
{
"aa_ref": "K",
"aa_alt": "SK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.362_363delAGinsGTAAGT",
"hgvs_p": "p.Lys121fs",
"transcript": "ENST00000878694.1",
"protein_id": "ENSP00000548753.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 222,
"cds_start": 362,
"cds_end": null,
"cds_length": 669,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878694.1"
},
{
"aa_ref": "K",
"aa_alt": "SK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.299_300delAGinsGTAAGT",
"hgvs_p": "p.Lys100fs",
"transcript": "ENST00000878695.1",
"protein_id": "ENSP00000548754.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 201,
"cds_start": 299,
"cds_end": null,
"cds_length": 606,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878695.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.205-1610_205-1609delAGinsGTAAGT",
"hgvs_p": null,
"transcript": "NM_001413414.1",
"protein_id": "NP_001400343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.205-1610_205-1609delAGinsGTAAGT",
"hgvs_p": null,
"transcript": "ENST00000878692.1",
"protein_id": "ENSP00000548751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.359-4501_359-4500delAGinsGTAAGT",
"hgvs_p": null,
"transcript": "NM_001413415.1",
"protein_id": "NP_001400344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": null,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413415.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.205-4501_205-4500delAGinsGTAAGT",
"hgvs_p": null,
"transcript": "NM_001413417.1",
"protein_id": "NP_001400346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413417.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.205-4501_205-4500delAGinsGTAAGT",
"hgvs_p": null,
"transcript": "ENST00000878693.1",
"protein_id": "ENSP00000548752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878693.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "n.697_698delAGinsGTAAGT",
"hgvs_p": null,
"transcript": "NR_182150.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3847,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182150.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "n.408_409delAGinsGTAAGT",
"hgvs_p": null,
"transcript": "NR_182151.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182151.1"
},
{
"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": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "n.233-17323_233-17322delAGinsGTAAGT",
"hgvs_p": null,
"transcript": "ENST00000521138.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 283,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000521138.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "n.391-1610_391-1609delAGinsGTAAGT",
"hgvs_p": null,
"transcript": "NR_182149.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3518,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182149.1"
}
],
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"dbsnp": "rs1554605631",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.124,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001413418.1",
"gene_symbol": "TTPA",
"hgnc_id": 12404,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.647_648delAGinsGTAAGT",
"hgvs_p": "p.Lys216fs"
}
],
"clinvar_disease": "Familial isolated deficiency of vitamin E,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Familial isolated deficiency of vitamin E|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}