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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: 1-151569700-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151569700&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151569700,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001301317.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Thr175Arg",
"transcript": "NM_020127.3",
"protein_id": "NP_064512.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 390,
"cds_start": 524,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368849.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020127.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Thr175Arg",
"transcript": "ENST00000368849.8",
"protein_id": "ENSP00000357842.3",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 390,
"cds_start": 524,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020127.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368849.8"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.449C>G",
"hgvs_p": "p.Thr150Arg",
"transcript": "ENST00000368848.6",
"protein_id": "ENSP00000357841.2",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 365,
"cds_start": 449,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368848.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.581C>G",
"hgvs_p": "p.Thr194Arg",
"transcript": "NM_001301317.2",
"protein_id": "NP_001288246.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 409,
"cds_start": 581,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301317.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Thr175Arg",
"transcript": "ENST00000873676.1",
"protein_id": "ENSP00000543735.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 397,
"cds_start": 524,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873676.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.449C>G",
"hgvs_p": "p.Thr150Arg",
"transcript": "NM_001126337.2",
"protein_id": "NP_001119809.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 365,
"cds_start": 449,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126337.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.449C>G",
"hgvs_p": "p.Thr150Arg",
"transcript": "ENST00000943023.1",
"protein_id": "ENSP00000613082.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 363,
"cds_start": 449,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943023.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.434C>G",
"hgvs_p": "p.Thr145Arg",
"transcript": "ENST00000943022.1",
"protein_id": "ENSP00000613081.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 360,
"cds_start": 434,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943022.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.431C>G",
"hgvs_p": "p.Thr144Arg",
"transcript": "ENST00000873675.1",
"protein_id": "ENSP00000543734.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 359,
"cds_start": 431,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873675.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.383C>G",
"hgvs_p": "p.Thr128Arg",
"transcript": "ENST00000943025.1",
"protein_id": "ENSP00000613084.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 343,
"cds_start": 383,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943025.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.359C>G",
"hgvs_p": "p.Thr120Arg",
"transcript": "ENST00000392712.7",
"protein_id": "ENSP00000376476.3",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 335,
"cds_start": 359,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392712.7"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.347C>G",
"hgvs_p": "p.Thr116Arg",
"transcript": "ENST00000873674.1",
"protein_id": "ENSP00000543733.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 331,
"cds_start": 347,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873674.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Thr86Arg",
"transcript": "ENST00000943021.1",
"protein_id": "ENSP00000613080.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 301,
"cds_start": 257,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943021.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.467C>G",
"hgvs_p": "p.Thr156Arg",
"transcript": "XM_017002223.3",
"protein_id": "XP_016857712.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 371,
"cds_start": 467,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002223.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Thr131Arg",
"transcript": "XM_017002224.2",
"protein_id": "XP_016857713.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 346,
"cds_start": 392,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002224.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.347C>G",
"hgvs_p": "p.Thr116Arg",
"transcript": "XM_011509961.3",
"protein_id": "XP_011508263.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 331,
"cds_start": 347,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509961.3"
},
{
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "c.405+3472C>G",
"hgvs_p": null,
"transcript": "ENST00000943024.1",
"protein_id": "ENSP00000613083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "n.351C>G",
"hgvs_p": null,
"transcript": "ENST00000490156.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490156.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"hgvs_c": "n.557C>G",
"hgvs_p": null,
"transcript": "ENST00000498606.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000498606.5"
}
],
"gene_symbol": "TUFT1",
"gene_hgnc_id": 12422,
"dbsnp": "rs41310883",
"frequency_reference_population": 0.0000020524217,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205242,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6379448175430298,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.147,
"revel_prediction": "Benign",
"alphamissense_score": 0.1501,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.307,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001301317.2",
"gene_symbol": "TUFT1",
"hgnc_id": 12422,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.581C>G",
"hgvs_p": "p.Thr194Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}