← 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: 3-56627292-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=56627292&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 56627292,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000683822.1",
"consequences": [
{
"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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.4031-147A>G",
"hgvs_p": null,
"transcript": "NM_001365635.2",
"protein_id": "NP_001352564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1670,
"cds_start": -4,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8177,
"mane_select": "ENST00000683822.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.4031-147A>G",
"hgvs_p": null,
"transcript": "ENST00000683822.1",
"protein_id": "ENSP00000508241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1670,
"cds_start": -4,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8177,
"mane_select": "NM_001365635.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3848-147A>G",
"hgvs_p": null,
"transcript": "ENST00000355628.9",
"protein_id": "ENSP00000347845.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1609,
"cds_start": -4,
"cds_end": null,
"cds_length": 4830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.2720-147A>G",
"hgvs_p": null,
"transcript": "ENST00000431842.6",
"protein_id": "ENSP00000399410.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1233,
"cds_start": -4,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.2126-147A>G",
"hgvs_p": null,
"transcript": "ENST00000614531.1",
"protein_id": "ENSP00000483340.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3441,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "n.1213-147A>G",
"hgvs_p": null,
"transcript": "ENST00000459993.5",
"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": 5099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3908-147A>G",
"hgvs_p": null,
"transcript": "NM_001365636.2",
"protein_id": "NP_001352565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1629,
"cds_start": -4,
"cds_end": null,
"cds_length": 4890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3848-147A>G",
"hgvs_p": null,
"transcript": "NM_001363940.1",
"protein_id": "NP_001350869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1609,
"cds_start": -4,
"cds_end": null,
"cds_length": 4830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.4031-147A>G",
"hgvs_p": null,
"transcript": "NM_001112736.2",
"protein_id": "NP_001106207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1512,
"cds_start": -4,
"cds_end": null,
"cds_length": 4539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.4031-147A>G",
"hgvs_p": null,
"transcript": "ENST00000493960.6",
"protein_id": "ENSP00000417509.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1512,
"cds_start": -4,
"cds_end": null,
"cds_length": 4539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3908-147A>G",
"hgvs_p": null,
"transcript": "NM_001365637.2",
"protein_id": "NP_001352566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1471,
"cds_start": -4,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3848-147A>G",
"hgvs_p": null,
"transcript": "NM_001365638.2",
"protein_id": "NP_001352567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1451,
"cds_start": -4,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.2720-147A>G",
"hgvs_p": null,
"transcript": "NM_015224.3",
"protein_id": "NP_056039.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1233,
"cds_start": -4,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7247,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "n.310-147A>G",
"hgvs_p": null,
"transcript": "ENST00000487036.1",
"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": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3083-147A>G",
"hgvs_p": null,
"transcript": "XM_047447814.1",
"protein_id": "XP_047303770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1354,
"cds_start": -4,
"cds_end": null,
"cds_length": 4065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.2843-147A>G",
"hgvs_p": null,
"transcript": "XM_047447815.1",
"protein_id": "XP_047303771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1274,
"cds_start": -4,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "n.-222A>G",
"hgvs_p": null,
"transcript": "ENST00000485156.1",
"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": 926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"dbsnp": "rs2029464",
"frequency_reference_population": 0.000006577476,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657748,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.463,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000683822.1",
"gene_symbol": "TASOR",
"hgnc_id": 30314,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4031-147A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}