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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: 16-84762997-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84762997&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84762997,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000219473.12",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.1563A>G",
"hgvs_p": "p.Gln521Gln",
"transcript": "NM_005153.3",
"protein_id": "NP_005144.2",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 798,
"cds_start": 1563,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": "ENST00000219473.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.1563A>G",
"hgvs_p": "p.Gln521Gln",
"transcript": "ENST00000219473.12",
"protein_id": "ENSP00000219473.7",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 798,
"cds_start": 1563,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": "NM_005153.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "n.*1111A>G",
"hgvs_p": null,
"transcript": "ENST00000540269.6",
"protein_id": "ENSP00000445589.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "n.*1111A>G",
"hgvs_p": null,
"transcript": "ENST00000540269.6",
"protein_id": "ENSP00000445589.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.1575A>G",
"hgvs_p": "p.Gln525Gln",
"transcript": "NM_001272075.2",
"protein_id": "NP_001259004.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 802,
"cds_start": 1575,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.1575A>G",
"hgvs_p": "p.Gln525Gln",
"transcript": "ENST00000570191.5",
"protein_id": "ENSP00000457411.1",
"transcript_support_level": 2,
"aa_start": 525,
"aa_end": null,
"aa_length": 802,
"cds_start": 1575,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.438A>G",
"hgvs_p": "p.Gln146Gln",
"transcript": "ENST00000569038.5",
"protein_id": "ENSP00000462762.1",
"transcript_support_level": 3,
"aa_start": 146,
"aa_end": null,
"aa_length": 207,
"cds_start": 438,
"cds_end": null,
"cds_length": 624,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.99A>G",
"hgvs_p": "p.Gln33Gln",
"transcript": "ENST00000570053.1",
"protein_id": "ENSP00000454751.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 149,
"cds_start": 99,
"cds_end": null,
"cds_length": 451,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.1578A>G",
"hgvs_p": "p.Gln526Gln",
"transcript": "XM_047434876.1",
"protein_id": "XP_047290832.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 781,
"cds_start": 1578,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Gln325Gln",
"transcript": "XM_006721332.2",
"protein_id": "XP_006721395.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 602,
"cds_start": 975,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Gln325Gln",
"transcript": "XM_011523443.2",
"protein_id": "XP_011521745.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 602,
"cds_start": 975,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Gln325Gln",
"transcript": "XM_017023868.2",
"protein_id": "XP_016879357.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 602,
"cds_start": 975,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 3622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Gln325Gln",
"transcript": "XM_047434877.1",
"protein_id": "XP_047290833.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 602,
"cds_start": 975,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Gln325Gln",
"transcript": "XM_047434878.1",
"protein_id": "XP_047290834.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 602,
"cds_start": 975,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "n.*353A>G",
"hgvs_p": null,
"transcript": "ENST00000563048.5",
"protein_id": "ENSP00000454902.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "n.364A>G",
"hgvs_p": null,
"transcript": "ENST00000563433.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "n.449A>G",
"hgvs_p": null,
"transcript": "ENST00000566378.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "n.552A>G",
"hgvs_p": null,
"transcript": "NR_073577.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "n.1391A>G",
"hgvs_p": null,
"transcript": "NR_073578.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "n.*353A>G",
"hgvs_p": null,
"transcript": "ENST00000563048.5",
"protein_id": "ENSP00000454902.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295451",
"gene_hgnc_id": null,
"hgvs_c": "n.122+599T>C",
"hgvs_p": null,
"transcript": "ENST00000730201.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295451",
"gene_hgnc_id": null,
"hgvs_c": "n.116+599T>C",
"hgvs_p": null,
"transcript": "ENST00000730202.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295451",
"gene_hgnc_id": null,
"hgvs_c": "n.116+599T>C",
"hgvs_p": null,
"transcript": "ENST00000730203.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
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"dbsnp": "rs12932018",
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"hom_count_reference_population": 59494,
"allele_count_reference_population": 423634,
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"gnomad_genomes_af": 0.229715,
"gnomad_exomes_ac": 388681,
"gnomad_genomes_ac": 34953,
"gnomad_exomes_homalt": 54714,
"gnomad_genomes_homalt": 4780,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.055,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000219473.12",
"gene_symbol": "USP10",
"hgnc_id": 12608,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1563A>G",
"hgvs_p": "p.Gln521Gln"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000730201.1",
"gene_symbol": "ENSG00000295451",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.122+599T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}