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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: 9-132349411-CCAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132349411&ref=CCAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 132349411,
"ref": "CCAA",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000224140.6",
"consequences": [
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "NM_015046.7",
"protein_id": "NP_055861.3",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2677,
"cds_start": 15,
"cds_end": null,
"cds_length": 8034,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 11101,
"mane_select": "ENST00000224140.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "ENST00000224140.6",
"protein_id": "ENSP00000224140.5",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 2677,
"cds_start": 15,
"cds_end": null,
"cds_length": 8034,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 11101,
"mane_select": "NM_015046.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "NM_001351528.2",
"protein_id": "NP_001338457.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2706,
"cds_start": 15,
"cds_end": null,
"cds_length": 8121,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 11188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "NM_001351527.2",
"protein_id": "NP_001338456.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2677,
"cds_start": 15,
"cds_end": null,
"cds_length": 8034,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 11237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "XM_005272172.4",
"protein_id": "XP_005272229.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2706,
"cds_start": 15,
"cds_end": null,
"cds_length": 8121,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 11304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "XM_005272173.4",
"protein_id": "XP_005272230.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2706,
"cds_start": 15,
"cds_end": null,
"cds_length": 8121,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 11324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "XM_011518404.4",
"protein_id": "XP_011516706.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2706,
"cds_start": 15,
"cds_end": null,
"cds_length": 8121,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 11333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "XM_011518405.4",
"protein_id": "XP_011516707.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2706,
"cds_start": 15,
"cds_end": null,
"cds_length": 8121,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 11468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "XM_047423023.1",
"protein_id": "XP_047278979.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2677,
"cds_start": 15,
"cds_end": null,
"cds_length": 8034,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 11381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "XM_011518406.3",
"protein_id": "XP_011516708.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2413,
"cds_start": 15,
"cds_end": null,
"cds_length": 7242,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 8220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "XM_011518407.2",
"protein_id": "XP_011516709.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2372,
"cds_start": 15,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 9962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "XM_011518408.4",
"protein_id": "XP_011516710.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2191,
"cds_start": 15,
"cds_end": null,
"cds_length": 6576,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 6883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "XM_047423024.1",
"protein_id": "XP_047278980.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1695,
"cds_start": 15,
"cds_end": null,
"cds_length": 5088,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 5290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CW",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del",
"transcript": "XM_047423025.1",
"protein_id": "XP_047278981.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1558,
"cds_start": 15,
"cds_end": null,
"cds_length": 4677,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 4929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"dbsnp": "rs774123592",
"frequency_reference_population": 0.0000013680957,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.412,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000224140.6",
"gene_symbol": "SETX",
"hgnc_id": 445,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.15_17delTTG",
"hgvs_p": "p.Cys5del"
}
],
"clinvar_disease": " autosomal recessive, early-onset, with axonal neuropathy 2, with oculomotor apraxia and hypoalbuminemia,Amyotrophic lateral sclerosis type 4,Ataxia,Spinocerebellar ataxia,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "not specified|Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|Amyotrophic lateral sclerosis type 4|Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}