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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: 8-132941493-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132941493&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TG",
"hgnc_id": 11764,
"hgvs_c": "c.5184C>T",
"hgvs_p": "p.Cys1728Cys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_003235.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -7,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "8",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2768,
"aa_ref": "C",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8455,
"cdna_start": 5227,
"cds_end": null,
"cds_length": 8307,
"cds_start": 5184,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_003235.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.5184C>T",
"hgvs_p": "p.Cys1728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000220616.9",
"protein_coding": true,
"protein_id": "NP_003226.4",
"strand": true,
"transcript": "NM_003235.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2768,
"aa_ref": "C",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8455,
"cdna_start": 5227,
"cds_end": null,
"cds_length": 8307,
"cds_start": 5184,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000220616.9",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.5184C>T",
"hgvs_p": "p.Cys1728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003235.5",
"protein_coding": true,
"protein_id": "ENSP00000220616.4",
"strand": true,
"transcript": "ENST00000220616.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000523756.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "n.*1397C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428628.1",
"strand": true,
"transcript": "ENST00000523756.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 35,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000523756.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "n.*1397C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428628.1",
"strand": true,
"transcript": "ENST00000523756.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2747,
"aa_ref": "C",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8392,
"cdna_start": 5227,
"cds_end": null,
"cds_length": 8244,
"cds_start": 5184,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_006716622.4",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.5184C>T",
"hgvs_p": "p.Cys1728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716685.1",
"strand": true,
"transcript": "XM_006716622.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2746,
"aa_ref": "C",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8389,
"cdna_start": 5227,
"cds_end": null,
"cds_length": 8241,
"cds_start": 5184,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_017013793.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.5184C>T",
"hgvs_p": "p.Cys1728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869282.1",
"strand": true,
"transcript": "XM_017013793.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2723,
"aa_ref": "C",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8320,
"cdna_start": 5227,
"cds_end": null,
"cds_length": 8172,
"cds_start": 5184,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_017013794.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.5184C>T",
"hgvs_p": "p.Cys1728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869283.1",
"strand": true,
"transcript": "XM_017013794.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2711,
"aa_ref": "C",
"aa_start": 1671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8284,
"cdna_start": 5056,
"cds_end": null,
"cds_length": 8136,
"cds_start": 5013,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017013795.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.5013C>T",
"hgvs_p": "p.Cys1671Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869284.1",
"strand": true,
"transcript": "XM_017013795.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2695,
"aa_ref": "C",
"aa_start": 1655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8236,
"cdna_start": 5008,
"cds_end": null,
"cds_length": 8088,
"cds_start": 4965,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017013796.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.4965C>T",
"hgvs_p": "p.Cys1655Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869285.1",
"strand": true,
"transcript": "XM_017013796.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2681,
"aa_ref": "C",
"aa_start": 1641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8199,
"cdna_start": 4971,
"cds_end": null,
"cds_length": 8046,
"cds_start": 4923,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047422166.1",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.4923C>T",
"hgvs_p": "p.Cys1641Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278122.1",
"strand": true,
"transcript": "XM_047422166.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2445,
"aa_ref": "C",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7396,
"cdna_start": 5227,
"cds_end": null,
"cds_length": 7338,
"cds_start": 5184,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_017013798.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.5184C>T",
"hgvs_p": "p.Cys1728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869287.1",
"strand": true,
"transcript": "XM_017013798.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2178,
"aa_ref": "C",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7692,
"cdna_start": 5227,
"cds_end": null,
"cds_length": 6537,
"cds_start": 5184,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_005251040.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.5184C>T",
"hgvs_p": "p.Cys1728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251097.1",
"strand": true,
"transcript": "XM_005251040.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2140,
"aa_ref": "C",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6485,
"cdna_start": 5227,
"cds_end": null,
"cds_length": 6423,
"cds_start": 5184,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_017013799.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.5184C>T",
"hgvs_p": "p.Cys1728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869288.1",
"strand": true,
"transcript": "XM_017013799.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2121,
"aa_ref": "C",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7599,
"cdna_start": 5227,
"cds_end": null,
"cds_length": 6366,
"cds_start": 5184,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_005251042.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.5184C>T",
"hgvs_p": "p.Cys1728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251099.1",
"strand": true,
"transcript": "XM_005251042.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2103,
"aa_ref": "C",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6574,
"cdna_start": 5227,
"cds_end": null,
"cds_length": 6312,
"cds_start": 5184,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_017013800.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.5184C>T",
"hgvs_p": "p.Cys1728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869289.1",
"strand": true,
"transcript": "XM_017013800.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1223,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3706,
"cdna_start": null,
"cds_end": null,
"cds_length": 3672,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000519178.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.598+5629C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430523.1",
"strand": true,
"transcript": "ENST00000519178.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2704,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8263,
"cdna_start": null,
"cds_end": null,
"cds_length": 8115,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005251038.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.5041+5629C>T",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251095.1",
"strand": true,
"transcript": "XM_005251038.5",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs199599591",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000008673188,
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"gnomad_exomes_ac": 12,
"gnomad_exomes_af": 0.00000820855,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131337,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.046,
"pos": 132941493,
"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_003235.5"
}
]
}