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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: 9-132264902-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132264902&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 132264902,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001351528.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7371T>C",
"hgvs_p": "p.His2457His",
"transcript": "NM_015046.7",
"protein_id": "NP_055861.3",
"transcript_support_level": null,
"aa_start": 2457,
"aa_end": null,
"aa_length": 2677,
"cds_start": 7371,
"cds_end": null,
"cds_length": 8034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000224140.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015046.7"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7371T>C",
"hgvs_p": "p.His2457His",
"transcript": "ENST00000224140.6",
"protein_id": "ENSP00000224140.5",
"transcript_support_level": 1,
"aa_start": 2457,
"aa_end": null,
"aa_length": 2677,
"cds_start": 7371,
"cds_end": null,
"cds_length": 8034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015046.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000224140.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7497T>C",
"hgvs_p": "p.His2499His",
"transcript": "ENST00000923216.1",
"protein_id": "ENSP00000593275.1",
"transcript_support_level": null,
"aa_start": 2499,
"aa_end": null,
"aa_length": 2719,
"cds_start": 7497,
"cds_end": null,
"cds_length": 8160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923216.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7458T>C",
"hgvs_p": "p.His2486His",
"transcript": "NM_001351528.2",
"protein_id": "NP_001338457.1",
"transcript_support_level": null,
"aa_start": 2486,
"aa_end": null,
"aa_length": 2706,
"cds_start": 7458,
"cds_end": null,
"cds_length": 8121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351528.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7410T>C",
"hgvs_p": "p.His2470His",
"transcript": "ENST00000923217.1",
"protein_id": "ENSP00000593276.1",
"transcript_support_level": null,
"aa_start": 2470,
"aa_end": null,
"aa_length": 2690,
"cds_start": 7410,
"cds_end": null,
"cds_length": 8073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923217.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7371T>C",
"hgvs_p": "p.His2457His",
"transcript": "NM_001351527.2",
"protein_id": "NP_001338456.1",
"transcript_support_level": null,
"aa_start": 2457,
"aa_end": null,
"aa_length": 2677,
"cds_start": 7371,
"cds_end": null,
"cds_length": 8034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351527.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7371T>C",
"hgvs_p": "p.His2457His",
"transcript": "ENST00000905306.1",
"protein_id": "ENSP00000575365.1",
"transcript_support_level": null,
"aa_start": 2457,
"aa_end": null,
"aa_length": 2677,
"cds_start": 7371,
"cds_end": null,
"cds_length": 8034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905306.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7371T>C",
"hgvs_p": "p.His2457His",
"transcript": "ENST00000923215.1",
"protein_id": "ENSP00000593274.1",
"transcript_support_level": null,
"aa_start": 2457,
"aa_end": null,
"aa_length": 2677,
"cds_start": 7371,
"cds_end": null,
"cds_length": 8034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923215.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7344T>C",
"hgvs_p": "p.His2448His",
"transcript": "ENST00000923219.1",
"protein_id": "ENSP00000593278.1",
"transcript_support_level": null,
"aa_start": 2448,
"aa_end": null,
"aa_length": 2668,
"cds_start": 7344,
"cds_end": null,
"cds_length": 8007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923219.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7305T>C",
"hgvs_p": "p.His2435His",
"transcript": "ENST00000947394.1",
"protein_id": "ENSP00000617453.1",
"transcript_support_level": null,
"aa_start": 2435,
"aa_end": null,
"aa_length": 2655,
"cds_start": 7305,
"cds_end": null,
"cds_length": 7968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947394.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.3390T>C",
"hgvs_p": "p.His1130His",
"transcript": "ENST00000923218.1",
"protein_id": "ENSP00000593277.1",
"transcript_support_level": null,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3390,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923218.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.3195T>C",
"hgvs_p": "p.His1065His",
"transcript": "ENST00000905305.1",
"protein_id": "ENSP00000575364.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3195,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905305.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"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": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2184T>C",
"hgvs_p": "p.His728His",
"transcript": "ENST00000436441.5",
"protein_id": "ENSP00000409143.1",
"transcript_support_level": 5,
"aa_start": 728,
"aa_end": null,
"aa_length": 948,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436441.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7458T>C",
"hgvs_p": "p.His2486His",
"transcript": "XM_005272172.4",
"protein_id": "XP_005272229.1",
"transcript_support_level": null,
"aa_start": 2486,
"aa_end": null,
"aa_length": 2706,
"cds_start": 7458,
"cds_end": null,
"cds_length": 8121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272172.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7458T>C",
"hgvs_p": "p.His2486His",
"transcript": "XM_005272173.4",
"protein_id": "XP_005272230.1",
"transcript_support_level": null,
"aa_start": 2486,
"aa_end": null,
"aa_length": 2706,
"cds_start": 7458,
"cds_end": null,
"cds_length": 8121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272173.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7458T>C",
"hgvs_p": "p.His2486His",
"transcript": "XM_011518404.4",
"protein_id": "XP_011516706.1",
"transcript_support_level": null,
"aa_start": 2486,
"aa_end": null,
"aa_length": 2706,
"cds_start": 7458,
"cds_end": null,
"cds_length": 8121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518404.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7458T>C",
"hgvs_p": "p.His2486His",
"transcript": "XM_011518405.4",
"protein_id": "XP_011516707.1",
"transcript_support_level": null,
"aa_start": 2486,
"aa_end": null,
"aa_length": 2706,
"cds_start": 7458,
"cds_end": null,
"cds_length": 8121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518405.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.7371T>C",
"hgvs_p": "p.His2457His",
"transcript": "XM_047423023.1",
"protein_id": "XP_047278979.1",
"transcript_support_level": null,
"aa_start": 2457,
"aa_end": null,
"aa_length": 2677,
"cds_start": 7371,
"cds_end": null,
"cds_length": 8034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423023.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "n.521T>C",
"hgvs_p": null,
"transcript": "ENST00000477049.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000477049.1"
}
],
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"dbsnp": "rs113071480",
"frequency_reference_population": 0.00068211724,
"hom_count_reference_population": 10,
"allele_count_reference_population": 1101,
"gnomad_exomes_af": 0.000373499,
"gnomad_genomes_af": 0.00364551,
"gnomad_exomes_ac": 546,
"gnomad_genomes_ac": 555,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.624,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001351528.2",
"gene_symbol": "SETX",
"hgnc_id": 445,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.7458T>C",
"hgvs_p": "p.His2486His"
}
],
"clinvar_disease": " autosomal recessive, with axonal neuropathy 2,Amyotrophic lateral sclerosis type 4,Hereditary spastic paraplegia,Inborn genetic diseases,Spinocerebellar ataxia,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:4",
"phenotype_combined": "Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis type 4|Inborn genetic diseases|not provided|Hereditary spastic paraplegia",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}