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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: 3-52502648-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52502648&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "STAB1",
"hgnc_id": 18628,
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_015136.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 10169,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "3",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6899999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2570,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7928,
"cdna_start": 580,
"cds_end": null,
"cds_length": 7713,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 69,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_015136.3",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000321725.10",
"protein_coding": true,
"protein_id": "NP_055951.2",
"strand": true,
"transcript": "NM_015136.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2570,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7928,
"cdna_start": 580,
"cds_end": null,
"cds_length": 7713,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 69,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000321725.10",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015136.3",
"protein_coding": true,
"protein_id": "ENSP00000312946.6",
"strand": true,
"transcript": "ENST00000321725.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000481607.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "n.559C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481607.1",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2569,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7940,
"cdna_start": 578,
"cds_end": null,
"cds_length": 7710,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 69,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899926.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569985.1",
"strand": true,
"transcript": "ENST00000899926.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2565,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7911,
"cdna_start": 580,
"cds_end": null,
"cds_length": 7698,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 69,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000965144.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635203.1",
"strand": true,
"transcript": "ENST00000965144.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2538,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7833,
"cdna_start": 581,
"cds_end": null,
"cds_length": 7617,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 68,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000965141.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635200.1",
"strand": true,
"transcript": "ENST00000965141.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2537,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7827,
"cdna_start": 580,
"cds_end": null,
"cds_length": 7614,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 68,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000965143.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635202.1",
"strand": true,
"transcript": "ENST00000965143.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2527,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7795,
"cdna_start": 578,
"cds_end": null,
"cds_length": 7584,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 68,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899927.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569986.1",
"strand": true,
"transcript": "ENST00000899927.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2521,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7777,
"cdna_start": 578,
"cds_end": null,
"cds_length": 7566,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 68,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000965146.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635205.1",
"strand": true,
"transcript": "ENST00000965146.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2520,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7776,
"cdna_start": 578,
"cds_end": null,
"cds_length": 7563,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 68,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000965142.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635201.1",
"strand": true,
"transcript": "ENST00000965142.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2502,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7720,
"cdna_start": 578,
"cds_end": null,
"cds_length": 7509,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 68,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000965145.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635204.1",
"strand": true,
"transcript": "ENST00000965145.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2595,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8003,
"cdna_start": 580,
"cds_end": null,
"cds_length": 7788,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 68,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005264973.4",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265030.1",
"strand": true,
"transcript": "XM_005264973.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2569,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7925,
"cdna_start": 580,
"cds_end": null,
"cds_length": 7710,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 69,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005264974.2",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265031.1",
"strand": true,
"transcript": "XM_005264974.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2563,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7907,
"cdna_start": 580,
"cds_end": null,
"cds_length": 7692,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 67,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447774.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303730.1",
"strand": true,
"transcript": "XM_047447774.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2545,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7853,
"cdna_start": 580,
"cds_end": null,
"cds_length": 7638,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 67,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447775.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303731.1",
"strand": true,
"transcript": "XM_047447775.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2520,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7778,
"cdna_start": 580,
"cds_end": null,
"cds_length": 7563,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 68,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447776.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303732.1",
"strand": true,
"transcript": "XM_047447776.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2169,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6674,
"cdna_start": 580,
"cds_end": null,
"cds_length": 6510,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 60,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447777.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303733.1",
"strand": true,
"transcript": "XM_047447777.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1619,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5045,
"cdna_start": 580,
"cds_end": null,
"cds_length": 4860,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_006713065.1",
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713128.1",
"strand": true,
"transcript": "XM_006713065.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs140965743",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0063031903,
"gene_hgnc_id": 18628,
"gene_symbol": "STAB1",
"gnomad_exomes_ac": 9402,
"gnomad_exomes_af": 0.00643544,
"gnomad_exomes_homalt": 70,
"gnomad_genomes_ac": 767,
"gnomad_genomes_af": 0.00503486,
"gnomad_genomes_homalt": 4,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 74,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.788,
"pos": 52502648,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.04,
"transcript": "NM_015136.3"
}
]
}