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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: 10-11462529-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=11462529&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 11462529,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014688.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2399C>G",
"hgvs_p": "p.Ser800Cys",
"transcript": "NM_014688.5",
"protein_id": "NP_055503.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 828,
"cds_start": 2399,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2690,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": "ENST00000609104.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2399C>G",
"hgvs_p": "p.Ser800Cys",
"transcript": "ENST00000609104.6",
"protein_id": "ENSP00000476462.1",
"transcript_support_level": 1,
"aa_start": 800,
"aa_end": null,
"aa_length": 828,
"cds_start": 2399,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2690,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": "NM_014688.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2468C>G",
"hgvs_p": "p.Ser823Cys",
"transcript": "NM_001391959.1",
"protein_id": "NP_001378888.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 851,
"cds_start": 2468,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 4878,
"cdna_end": null,
"cdna_length": 6897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2468C>G",
"hgvs_p": "p.Ser823Cys",
"transcript": "ENST00000379237.6",
"protein_id": "ENSP00000368539.2",
"transcript_support_level": 5,
"aa_start": 823,
"aa_end": null,
"aa_length": 851,
"cds_start": 2468,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2527,
"cdna_end": null,
"cdna_length": 4546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2450C>G",
"hgvs_p": "p.Ser817Cys",
"transcript": "NM_001080491.5",
"protein_id": "NP_001073960.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 845,
"cds_start": 2450,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2645,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2450C>G",
"hgvs_p": "p.Ser817Cys",
"transcript": "ENST00000277575.5",
"protein_id": "ENSP00000277575.5",
"transcript_support_level": 5,
"aa_start": 817,
"aa_end": null,
"aa_length": 845,
"cds_start": 2450,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2252C>G",
"hgvs_p": "p.Ser751Cys",
"transcript": "NM_001391960.1",
"protein_id": "NP_001378889.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 779,
"cds_start": 2252,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2607,
"cdna_end": null,
"cdna_length": 4626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2246C>G",
"hgvs_p": "p.Ser749Cys",
"transcript": "NM_001391961.1",
"protein_id": "NP_001378890.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 777,
"cds_start": 2246,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2483C>G",
"hgvs_p": "p.Ser828Cys",
"transcript": "XM_006717542.4",
"protein_id": "XP_006717605.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 856,
"cds_start": 2483,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2483C>G",
"hgvs_p": "p.Ser828Cys",
"transcript": "XM_011519762.3",
"protein_id": "XP_011518064.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 856,
"cds_start": 2483,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 5012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2483C>G",
"hgvs_p": "p.Ser828Cys",
"transcript": "XM_047426036.1",
"protein_id": "XP_047281992.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 856,
"cds_start": 2483,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 6822,
"cdna_end": null,
"cdna_length": 8841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2453C>G",
"hgvs_p": "p.Ser818Cys",
"transcript": "XM_017016971.2",
"protein_id": "XP_016872460.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 846,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2399C>G",
"hgvs_p": "p.Ser800Cys",
"transcript": "XM_047426037.1",
"protein_id": "XP_047281993.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 828,
"cds_start": 2399,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 4923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2162C>G",
"hgvs_p": "p.Ser721Cys",
"transcript": "XM_024448263.2",
"protein_id": "XP_024304031.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 749,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2603,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1931C>G",
"hgvs_p": "p.Ser644Cys",
"transcript": "XM_011519763.3",
"protein_id": "XP_011518065.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 672,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2407,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1931C>G",
"hgvs_p": "p.Ser644Cys",
"transcript": "XM_047426038.1",
"protein_id": "XP_047281994.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 672,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 4123,
"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": "ENSG00000301463",
"gene_hgnc_id": null,
"hgvs_c": "n.534G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.377-4504G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "USP6NL",
"gene_hgnc_id": 16858,
"dbsnp": "rs372926533",
"frequency_reference_population": 0.00022242242,
"hom_count_reference_population": 2,
"allele_count_reference_population": 359,
"gnomad_exomes_af": 0.000227132,
"gnomad_genomes_af": 0.000177237,
"gnomad_exomes_ac": 332,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.019590377807617188,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.0795,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.408,
"phylop100way_prediction": "Uncertain_significance",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014688.5",
"gene_symbol": "USP6NL",
"hgnc_id": 16858,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2399C>G",
"hgvs_p": "p.Ser800Cys"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000778991.1",
"gene_symbol": "ENSG00000301463",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.534G>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
}