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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: X-48805510-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48805510&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "HDAC6",
"hgnc_id": 14064,
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Cys142Cys",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_001321225.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_score": -9,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "X",
"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": -0.4099999964237213,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": 490,
"cds_end": null,
"cds_length": 3648,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_006044.4",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334136.11",
"protein_coding": true,
"protein_id": "NP_006035.2",
"strand": true,
"transcript": "NM_006044.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": 490,
"cds_end": null,
"cds_length": 3648,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000334136.11",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006044.4",
"protein_coding": true,
"protein_id": "ENSP00000334061.5",
"strand": true,
"transcript": "ENST00000334136.11",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4197,
"cdna_start": 569,
"cds_end": null,
"cds_length": 3648,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000376619.7",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365804.2",
"strand": true,
"transcript": "ENST00000376619.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 146,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1999,
"cdna_start": 671,
"cds_end": null,
"cds_length": 441,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000462730.5",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496727.1",
"strand": true,
"transcript": "ENST00000462730.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 146,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1152,
"cdna_start": 915,
"cds_end": null,
"cds_length": 441,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000465269.6",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494447.1",
"strand": true,
"transcript": "ENST00000465269.6",
"transcript_support_level": 1
},
{
"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": 4832,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000477528.5",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "n.502C>T",
"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": "ENST00000477528.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": 436,
"cds_end": null,
"cds_length": 3765,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901907.1",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571966.1",
"strand": true,
"transcript": "ENST00000901907.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "C",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4147,
"cdna_start": 519,
"cds_end": null,
"cds_length": 3690,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001321225.2",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Cys142Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308154.1",
"strand": true,
"transcript": "NM_001321225.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1225,
"aa_ref": "C",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4144,
"cdna_start": 516,
"cds_end": null,
"cds_length": 3678,
"cds_start": 414,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901898.1",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.414C>T",
"hgvs_p": "p.Cys138Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571957.1",
"strand": true,
"transcript": "ENST00000901898.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1221,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4103,
"cdna_start": 464,
"cds_end": null,
"cds_length": 3666,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901904.1",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571963.1",
"strand": true,
"transcript": "ENST00000901904.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1219,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4150,
"cdna_start": 509,
"cds_end": null,
"cds_length": 3660,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901902.1",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571961.1",
"strand": true,
"transcript": "ENST00000901902.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4527,
"cdna_start": 899,
"cds_end": null,
"cds_length": 3648,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321226.2",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308155.1",
"strand": true,
"transcript": "NM_001321226.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 620,
"cds_end": null,
"cds_length": 3648,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321227.2",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308156.1",
"strand": true,
"transcript": "NM_001321227.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4211,
"cdna_start": 583,
"cds_end": null,
"cds_length": 3648,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321228.2",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308157.1",
"strand": true,
"transcript": "NM_001321228.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4122,
"cdna_start": 488,
"cds_end": null,
"cds_length": 3648,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321229.1",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308158.1",
"strand": true,
"transcript": "NM_001321229.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4107,
"cdna_start": 488,
"cds_end": null,
"cds_length": 3648,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000376610.7",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365795.3",
"strand": true,
"transcript": "ENST00000376610.7",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": 659,
"cds_end": null,
"cds_length": 3648,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000376643.7",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365831.3",
"strand": true,
"transcript": "ENST00000376643.7",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": 540,
"cds_end": null,
"cds_length": 3648,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000423941.6",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392815.2",
"strand": true,
"transcript": "ENST00000423941.6",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 527,
"cds_end": null,
"cds_length": 3648,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000440653.2",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394377.2",
"strand": true,
"transcript": "ENST00000440653.2",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4431,
"cdna_start": 813,
"cds_end": null,
"cds_length": 3648,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000443563.6",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Cys128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402751.2",
"strand": true,
"transcript": "ENST00000443563.6",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "C",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4110,
"cdna_start": 491,
"cds_end": null,
"cds_length": 3648,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000643374.2",
"gene_hgnc_id": 14064,
"gene_symbol": "HDAC6",
"hgvs_c": "c.384C>T",
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{
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{
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],
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]
}