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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: 20-44051357-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44051357&ref=G&alt=A&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": "TOX2",
"hgnc_id": 16095,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Gly155Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001098797.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.3294,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24937382340431213,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 506,
"aa_ref": "G",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1521,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001098797.2",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Gly155Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341197.9",
"protein_coding": true,
"protein_id": "NP_001092267.1",
"strand": true,
"transcript": "NM_001098797.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 506,
"aa_ref": "G",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1521,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000341197.9",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Gly155Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001098797.2",
"protein_coding": true,
"protein_id": "ENSP00000344724.3",
"strand": true,
"transcript": "ENST00000341197.9",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 464,
"aa_ref": "G",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": 531,
"cds_end": null,
"cds_length": 1395,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000372999.5",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Gly113Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362090.1",
"strand": true,
"transcript": "ENST00000372999.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 552,
"aa_ref": "G",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2621,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1659,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864666.1",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Gly155Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534725.1",
"strand": true,
"transcript": "ENST00000864666.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 488,
"aa_ref": "G",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1467,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001098798.2",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Gly164Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001092268.1",
"strand": true,
"transcript": "NM_001098798.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 488,
"aa_ref": "G",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2605,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1467,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000358131.5",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Gly164Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350849.5",
"strand": true,
"transcript": "ENST00000358131.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 484,
"aa_ref": "G",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 438,
"cds_end": null,
"cds_length": 1455,
"cds_start": 397,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000956506.1",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626565.1",
"strand": true,
"transcript": "ENST00000956506.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 479,
"aa_ref": "G",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2418,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1440,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864665.1",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Gly155Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534724.1",
"strand": true,
"transcript": "ENST00000864665.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 464,
"aa_ref": "G",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 443,
"cds_end": null,
"cds_length": 1395,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001098796.2",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Gly113Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001092266.1",
"strand": true,
"transcript": "NM_001098796.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 464,
"aa_ref": "G",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 568,
"cds_end": null,
"cds_length": 1395,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_032883.3",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Gly113Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_116272.1",
"strand": true,
"transcript": "NM_032883.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 464,
"aa_ref": "G",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 423,
"cds_end": null,
"cds_length": 1395,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000423191.6",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Gly113Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390278.1",
"strand": true,
"transcript": "ENST00000423191.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 515,
"aa_ref": "G",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1548,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006723884.1",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Gly164Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723947.1",
"strand": true,
"transcript": "XM_006723884.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 464,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2434,
"cdna_start": 446,
"cds_end": null,
"cds_length": 1395,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047440560.1",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Gly113Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296516.1",
"strand": true,
"transcript": "XM_047440560.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 464,
"aa_ref": "G",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2616,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1395,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047440561.1",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Gly113Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296517.1",
"strand": true,
"transcript": "XM_047440561.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 392,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1327,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1179,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047440563.1",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Gly155Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296519.1",
"strand": true,
"transcript": "XM_047440563.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 356,
"aa_ref": "G",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2018,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1071,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047440564.1",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Gly164Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296520.1",
"strand": true,
"transcript": "XM_047440564.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 350,
"aa_ref": "G",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1255,
"cdna_start": 446,
"cds_end": null,
"cds_length": 1053,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047440562.1",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Gly113Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296518.1",
"strand": true,
"transcript": "XM_047440562.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 347,
"aa_ref": "G",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2014,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1044,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047440565.1",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Gly155Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296521.1",
"strand": true,
"transcript": "XM_047440565.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 305,
"aa_ref": "G",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1957,
"cdna_start": 446,
"cds_end": null,
"cds_length": 918,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017028109.2",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Gly113Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016883598.1",
"strand": true,
"transcript": "XM_017028109.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 350,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": null,
"cds_end": null,
"cds_length": 1053,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956507.1",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "c.412-13420G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626566.1",
"strand": true,
"transcript": "ENST00000956507.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000435864.2",
"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
"hgvs_c": "n.278G>A",
"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": "ENST00000435864.2",
"transcript_support_level": 2
}
],
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"dbscsnv_ada_score": null,
"dbsnp": "rs759864213",
"effect": "missense_variant",
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"gene_hgnc_id": 16095,
"gene_symbol": "TOX2",
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"gnomad_mito_homoplasmic": null,
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"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.117,
"pos": 44051357,
"ref": "G",
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"revel_score": 0.159,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_001098797.2"
}
]
}