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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: 20-438655-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=438655&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TBC1D20",
"hgnc_id": 16133,
"hgvs_c": "c.1143G>A",
"hgvs_p": "p.Ala381Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_144628.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_score": -6,
"allele_count_reference_population": 971,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "20",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6399999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 403,
"aa_ref": "A",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4446,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1143,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_144628.4",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.1143G>A",
"hgvs_p": "p.Ala381Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354200.5",
"protein_coding": true,
"protein_id": "NP_653229.1",
"strand": false,
"transcript": "NM_144628.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 403,
"aa_ref": "A",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4446,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1143,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000354200.5",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.1143G>A",
"hgvs_p": "p.Ala381Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144628.4",
"protein_coding": true,
"protein_id": "ENSP00000346139.4",
"strand": false,
"transcript": "ENST00000354200.5",
"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": 2024,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000461304.5",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "n.1143G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432280.1",
"strand": false,
"transcript": "ENST00000461304.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 435,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4531,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1239,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000679895.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.1239G>A",
"hgvs_p": "p.Ala413Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505197.1",
"strand": false,
"transcript": "ENST00000679895.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 411,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1167,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000951242.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Ala389Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621301.1",
"strand": false,
"transcript": "ENST00000951242.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 403,
"aa_ref": "A",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3506,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1143,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000681539.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.1143G>A",
"hgvs_p": "p.Ala381Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505557.1",
"strand": false,
"transcript": "ENST00000681539.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 396,
"aa_ref": "A",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1433,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1122,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000893233.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Ala374Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563292.1",
"strand": false,
"transcript": "ENST00000893233.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 379,
"aa_ref": "A",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 1140,
"cds_start": 1071,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000893231.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.1071G>A",
"hgvs_p": "p.Ala357Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563290.1",
"strand": false,
"transcript": "ENST00000893231.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 378,
"aa_ref": "A",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4355,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1137,
"cds_start": 1068,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000681551.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.1068G>A",
"hgvs_p": "p.Ala356Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504974.1",
"strand": false,
"transcript": "ENST00000681551.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 376,
"aa_ref": "A",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4336,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1131,
"cds_start": 1062,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000681414.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.1062G>A",
"hgvs_p": "p.Ala354Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505797.1",
"strand": false,
"transcript": "ENST00000681414.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 372,
"aa_ref": "A",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3537,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1050,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000951243.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.1050G>A",
"hgvs_p": "p.Ala350Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621302.1",
"strand": false,
"transcript": "ENST00000951243.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 341,
"aa_ref": "A",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1026,
"cds_start": 957,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000680050.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.957G>A",
"hgvs_p": "p.Ala319Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505464.1",
"strand": false,
"transcript": "ENST00000680050.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 341,
"aa_ref": "A",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4234,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1026,
"cds_start": 957,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000681129.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.957G>A",
"hgvs_p": "p.Ala319Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505329.1",
"strand": false,
"transcript": "ENST00000681129.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 334,
"aa_ref": "A",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4222,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1005,
"cds_start": 936,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951241.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.936G>A",
"hgvs_p": "p.Ala312Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621300.1",
"strand": false,
"transcript": "ENST00000951241.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 317,
"aa_ref": "A",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3367,
"cdna_start": 994,
"cds_end": null,
"cds_length": 954,
"cds_start": 885,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951244.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Ala295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621303.1",
"strand": false,
"transcript": "ENST00000951244.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 316,
"aa_ref": "A",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 993,
"cds_end": null,
"cds_length": 951,
"cds_start": 882,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893232.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.882G>A",
"hgvs_p": "p.Ala294Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563291.1",
"strand": false,
"transcript": "ENST00000893232.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 314,
"aa_ref": "A",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4166,
"cdna_start": 999,
"cds_end": null,
"cds_length": 945,
"cds_start": 876,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932929.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "c.876G>A",
"hgvs_p": "p.Ala292Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602988.1",
"strand": false,
"transcript": "ENST00000932929.1",
"transcript_support_level": null
},
{
"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": 5541,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000461188.6",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "n.2383G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000461188.6",
"transcript_support_level": 2
},
{
"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": 3820,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000494633.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "n.1448G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000494633.1",
"transcript_support_level": 2
},
{
"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": 4495,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679451.1",
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
"hgvs_c": "n.1337G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000679451.1",
"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": 2708,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000679741.1",
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"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506511.1",
"strand": false,
"transcript": "ENST00000681777.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs141648576",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0006015416,
"gene_hgnc_id": 16133,
"gene_symbol": "TBC1D20",
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"gnomad_exomes_af": 0.000625903,
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"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.308,
"pos": 438655,
"ref": "C",
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"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_144628.4"
}
]
}