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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: 8-132897682-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132897682&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TG",
"hgnc_id": 11764,
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_003235.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0697,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07700741291046143,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2768,
"aa_ref": "P",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8455,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 8307,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_003235.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"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": "R",
"aa_end": null,
"aa_length": 2768,
"aa_ref": "P",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8455,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 8307,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000220616.9",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"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": "R",
"aa_end": null,
"aa_length": 2747,
"aa_ref": "P",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8392,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 8244,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006716622.4",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"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": "R",
"aa_end": null,
"aa_length": 2746,
"aa_ref": "P",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8389,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 8241,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017013793.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"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": "R",
"aa_end": null,
"aa_length": 2723,
"aa_ref": "P",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8320,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 8172,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017013794.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"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": "R",
"aa_end": null,
"aa_length": 2711,
"aa_ref": "P",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8284,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 8136,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017013795.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"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": "R",
"aa_end": null,
"aa_length": 2704,
"aa_ref": "P",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8263,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 8115,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005251038.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"intron_rank": null,
"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
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2695,
"aa_ref": "P",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8236,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 8088,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017013796.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"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": "R",
"aa_end": null,
"aa_length": 2681,
"aa_ref": "P",
"aa_start": 925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8199,
"cdna_start": 2822,
"cds_end": null,
"cds_length": 8046,
"cds_start": 2774,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047422166.1",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.2774C>G",
"hgvs_p": "p.Pro925Arg",
"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": "R",
"aa_end": null,
"aa_length": 2445,
"aa_ref": "P",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7396,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 7338,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017013798.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"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": "R",
"aa_end": null,
"aa_length": 2178,
"aa_ref": "P",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7692,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 6537,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005251040.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"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": "R",
"aa_end": null,
"aa_length": 2140,
"aa_ref": "P",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6485,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 6423,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017013799.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"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": "R",
"aa_end": null,
"aa_length": 2121,
"aa_ref": "P",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7599,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 6366,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005251042.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"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": "R",
"aa_end": null,
"aa_length": 2103,
"aa_ref": "P",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6574,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 6312,
"cds_start": 3035,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017013800.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.3035C>G",
"hgvs_p": "p.Pro1012Arg",
"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": 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": [
"upstream_gene_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000523756.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "n.-8C>G",
"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": 224,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 678,
"cdna_start": null,
"cds_end": null,
"cds_length": 676,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000518505.1",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.-68C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429605.1",
"strand": true,
"transcript": "ENST00000518505.1",
"transcript_support_level": 4
},
{
"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": 334,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000518097.1",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "n.-52C>G",
"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": "ENST00000518097.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs115936153",
"effect": "missense_variant",
"frequency_reference_population": 0.000006569784,
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656978,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.437,
"pos": 132897682,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.049,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003235.5"
}
]
}