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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: 10-11462753-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=11462753&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 11462753,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001391959.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2175A>G",
"hgvs_p": "p.Pro725Pro",
"transcript": "NM_014688.5",
"protein_id": "NP_055503.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 828,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000609104.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014688.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2175A>G",
"hgvs_p": "p.Pro725Pro",
"transcript": "ENST00000609104.6",
"protein_id": "ENSP00000476462.1",
"transcript_support_level": 1,
"aa_start": 725,
"aa_end": null,
"aa_length": 828,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014688.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000609104.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2295A>G",
"hgvs_p": "p.Pro765Pro",
"transcript": "ENST00000938640.1",
"protein_id": "ENSP00000608699.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 868,
"cds_start": 2295,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938640.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2253A>G",
"hgvs_p": "p.Pro751Pro",
"transcript": "ENST00000938639.1",
"protein_id": "ENSP00000608698.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 854,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938639.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2244A>G",
"hgvs_p": "p.Pro748Pro",
"transcript": "NM_001391959.1",
"protein_id": "NP_001378888.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 851,
"cds_start": 2244,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391959.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2244A>G",
"hgvs_p": "p.Pro748Pro",
"transcript": "ENST00000379237.6",
"protein_id": "ENSP00000368539.2",
"transcript_support_level": 5,
"aa_start": 748,
"aa_end": null,
"aa_length": 851,
"cds_start": 2244,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379237.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2226A>G",
"hgvs_p": "p.Pro742Pro",
"transcript": "NM_001080491.5",
"protein_id": "NP_001073960.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 845,
"cds_start": 2226,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080491.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2226A>G",
"hgvs_p": "p.Pro742Pro",
"transcript": "ENST00000277575.5",
"protein_id": "ENSP00000277575.5",
"transcript_support_level": 5,
"aa_start": 742,
"aa_end": null,
"aa_length": 845,
"cds_start": 2226,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277575.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2175A>G",
"hgvs_p": "p.Pro725Pro",
"transcript": "ENST00000938641.1",
"protein_id": "ENSP00000608700.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 828,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938641.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2028A>G",
"hgvs_p": "p.Pro676Pro",
"transcript": "NM_001391960.1",
"protein_id": "NP_001378889.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 779,
"cds_start": 2028,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391960.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2022A>G",
"hgvs_p": "p.Pro674Pro",
"transcript": "NM_001391961.1",
"protein_id": "NP_001378890.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 777,
"cds_start": 2022,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391961.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2022A>G",
"hgvs_p": "p.Pro674Pro",
"transcript": "ENST00000938638.1",
"protein_id": "ENSP00000608697.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 777,
"cds_start": 2022,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938638.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2259A>G",
"hgvs_p": "p.Pro753Pro",
"transcript": "XM_006717542.4",
"protein_id": "XP_006717605.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 856,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717542.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2259A>G",
"hgvs_p": "p.Pro753Pro",
"transcript": "XM_011519762.3",
"protein_id": "XP_011518064.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 856,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519762.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2259A>G",
"hgvs_p": "p.Pro753Pro",
"transcript": "XM_047426036.1",
"protein_id": "XP_047281992.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 856,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426036.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2229A>G",
"hgvs_p": "p.Pro743Pro",
"transcript": "XM_017016971.2",
"protein_id": "XP_016872460.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 846,
"cds_start": 2229,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016971.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.2175A>G",
"hgvs_p": "p.Pro725Pro",
"transcript": "XM_047426037.1",
"protein_id": "XP_047281993.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 828,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426037.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.1938A>G",
"hgvs_p": "p.Pro646Pro",
"transcript": "XM_024448263.2",
"protein_id": "XP_024304031.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 749,
"cds_start": 1938,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448263.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.1707A>G",
"hgvs_p": "p.Pro569Pro",
"transcript": "XM_011519763.3",
"protein_id": "XP_011518065.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 672,
"cds_start": 1707,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519763.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"hgvs_c": "c.1707A>G",
"hgvs_p": "p.Pro569Pro",
"transcript": "XM_047426038.1",
"protein_id": "XP_047281994.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 672,
"cds_start": 1707,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426038.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301463",
"gene_hgnc_id": null,
"hgvs_c": "n.758T>C",
"hgvs_p": null,
"transcript": "ENST00000778991.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000778991.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301463",
"gene_hgnc_id": null,
"hgvs_c": "n.377-4280T>C",
"hgvs_p": null,
"transcript": "ENST00000778990.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000778990.1"
}
],
"gene_symbol": "USP6NL",
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"dbsnp": "rs12570211",
"frequency_reference_population": 0.06715197,
"hom_count_reference_population": 5179,
"allele_count_reference_population": 108381,
"gnomad_exomes_af": 0.0684822,
"gnomad_genomes_af": 0.0543829,
"gnomad_exomes_ac": 100100,
"gnomad_genomes_ac": 8281,
"gnomad_exomes_homalt": 4791,
"gnomad_genomes_homalt": 388,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.252,
"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": -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": "NM_001391959.1",
"gene_symbol": "USP6NL",
"hgnc_id": 16858,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2244A>G",
"hgvs_p": "p.Pro748Pro"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000778991.1",
"gene_symbol": "ENSG00000301463",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.758T>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
}