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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: 7-27828808-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=27828808&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 27828808,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000396319.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "c.2349G>A",
"hgvs_p": "p.Gln783Gln",
"transcript": "NM_006024.7",
"protein_id": "NP_006015.4",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 789,
"cds_start": 2349,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": "ENST00000396319.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "c.2349G>A",
"hgvs_p": "p.Gln783Gln",
"transcript": "ENST00000396319.7",
"protein_id": "ENSP00000379612.2",
"transcript_support_level": 1,
"aa_start": 783,
"aa_end": null,
"aa_length": 789,
"cds_start": 2349,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": "NM_006024.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "c.2223G>A",
"hgvs_p": "p.Gln741Gln",
"transcript": "ENST00000265393.10",
"protein_id": "ENSP00000265393.6",
"transcript_support_level": 1,
"aa_start": 741,
"aa_end": null,
"aa_length": 747,
"cds_start": 2223,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "c.2421G>A",
"hgvs_p": "p.Gln807Gln",
"transcript": "ENST00000409980.5",
"protein_id": "ENSP00000386515.1",
"transcript_support_level": 5,
"aa_start": 807,
"aa_end": null,
"aa_length": 813,
"cds_start": 2421,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2556,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "c.2319G>A",
"hgvs_p": "p.Gln773Gln",
"transcript": "NM_001362794.2",
"protein_id": "NP_001349723.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 779,
"cds_start": 2319,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "c.2223G>A",
"hgvs_p": "p.Gln741Gln",
"transcript": "NM_001079864.3",
"protein_id": "NP_001073333.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 747,
"cds_start": 2223,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2338,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "c.2223G>A",
"hgvs_p": "p.Gln741Gln",
"transcript": "NM_001206901.1",
"protein_id": "NP_001193830.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 747,
"cds_start": 2223,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "c.2223G>A",
"hgvs_p": "p.Gln741Gln",
"transcript": "ENST00000543117.5",
"protein_id": "ENSP00000444811.1",
"transcript_support_level": 2,
"aa_start": 741,
"aa_end": null,
"aa_length": 747,
"cds_start": 2223,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 3365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "c.2028G>A",
"hgvs_p": "p.Gln676Gln",
"transcript": "NM_001362795.2",
"protein_id": "NP_001349724.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 682,
"cds_start": 2028,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2143,
"cdna_end": null,
"cdna_length": 3102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "c.1752G>A",
"hgvs_p": "p.Gln584Gln",
"transcript": "NM_001206902.2",
"protein_id": "NP_001193831.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 590,
"cds_start": 1752,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "c.1752G>A",
"hgvs_p": "p.Gln584Gln",
"transcript": "ENST00000433216.6",
"protein_id": "ENSP00000391907.2",
"transcript_support_level": 2,
"aa_start": 584,
"aa_end": null,
"aa_length": 590,
"cds_start": 1752,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "c.960G>A",
"hgvs_p": "p.Gln320Gln",
"transcript": "ENST00000457186.2",
"protein_id": "ENSP00000412575.2",
"transcript_support_level": 5,
"aa_start": 320,
"aa_end": null,
"aa_length": 326,
"cds_start": 960,
"cds_end": null,
"cds_length": 981,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 1174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "n.*1759G>A",
"hgvs_p": null,
"transcript": "ENST00000416801.6",
"protein_id": "ENSP00000391215.2",
"transcript_support_level": 2,
"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": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "n.*1759G>A",
"hgvs_p": null,
"transcript": "ENST00000416801.6",
"protein_id": "ENSP00000391215.2",
"transcript_support_level": 2,
"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": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "c.176+25G>A",
"hgvs_p": null,
"transcript": "ENST00000488564.2",
"protein_id": "ENSP00000477282.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4020,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"hgvs_c": "n.84+25G>A",
"hgvs_p": null,
"transcript": "ENST00000460059.1",
"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": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TAX1BP1",
"gene_hgnc_id": 11575,
"dbsnp": "rs116615727",
"frequency_reference_population": 0.000687158,
"hom_count_reference_population": 8,
"allele_count_reference_population": 1073,
"gnomad_exomes_af": 0.000365849,
"gnomad_genomes_af": 0.00374779,
"gnomad_exomes_ac": 517,
"gnomad_genomes_ac": 556,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3499999940395355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.949,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000396319.7",
"gene_symbol": "TAX1BP1",
"hgnc_id": 11575,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2349G>A",
"hgvs_p": "p.Gln783Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}