← 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: 4-48067679-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=48067679&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 48067679,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000264316.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"hgvs_c": "c.1542C>T",
"hgvs_p": "p.Ala514Ala",
"transcript": "NM_003328.3",
"protein_id": "NP_003319.2",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 527,
"cds_start": 1542,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": "ENST00000264316.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"hgvs_c": "c.1542C>T",
"hgvs_p": "p.Ala514Ala",
"transcript": "ENST00000264316.9",
"protein_id": "ENSP00000264316.4",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 527,
"cds_start": 1542,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": "NM_003328.3",
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"hgvs_c": "n.*139C>T",
"hgvs_p": null,
"transcript": "ENST00000514937.5",
"protein_id": "ENSP00000422139.1",
"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": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"hgvs_c": "n.*139C>T",
"hgvs_p": null,
"transcript": "ENST00000514937.5",
"protein_id": "ENSP00000422139.1",
"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": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"hgvs_c": "c.1542C>T",
"hgvs_p": "p.Ala514Ala",
"transcript": "ENST00000506073.3",
"protein_id": "ENSP00000422798.2",
"transcript_support_level": 3,
"aa_start": 514,
"aa_end": null,
"aa_length": 527,
"cds_start": 1542,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 6190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000507351.1",
"protein_id": "ENSP00000423481.1",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 182,
"cds_start": 507,
"cds_end": null,
"cds_length": 549,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"hgvs_c": "c.1551C>T",
"hgvs_p": "p.Ala517Ala",
"transcript": "XM_024454200.2",
"protein_id": "XP_024309968.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 530,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Ala495Ala",
"transcript": "XM_011513747.4",
"protein_id": "XP_011512049.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 508,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"hgvs_c": "c.1467C>T",
"hgvs_p": "p.Ala489Ala",
"transcript": "XM_017008581.3",
"protein_id": "XP_016864070.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 502,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"hgvs_c": "c.1119C>T",
"hgvs_p": "p.Ala373Ala",
"transcript": "XM_047416123.1",
"protein_id": "XP_047272079.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 386,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"hgvs_c": "c.828C>T",
"hgvs_p": "p.Ala276Ala",
"transcript": "XM_011513748.4",
"protein_id": "XP_011512050.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 289,
"cds_start": 828,
"cds_end": null,
"cds_length": 870,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2201,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"hgvs_c": "n.*176C>T",
"hgvs_p": null,
"transcript": "ENST00000509681.1",
"protein_id": "ENSP00000424070.1",
"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": 743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"hgvs_c": "n.*176C>T",
"hgvs_p": null,
"transcript": "ENST00000509681.1",
"protein_id": "ENSP00000424070.1",
"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": 743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TXK",
"gene_hgnc_id": 12434,
"dbsnp": "rs2230594",
"frequency_reference_population": 0.000016731134,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000177862,
"gnomad_genomes_af": 0.00000658103,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"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": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.026,
"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_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000264316.9",
"gene_symbol": "TXK",
"hgnc_id": 12434,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1542C>T",
"hgvs_p": "p.Ala514Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}