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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: 1-117953880-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=117953880&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 117953880,
"ref": "C",
"alt": "G",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000336338.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "NM_206996.4",
"protein_id": "NP_996879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2223,
"cds_start": -4,
"cds_end": null,
"cds_length": 6672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7203,
"mane_select": "ENST00000336338.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "ENST00000336338.10",
"protein_id": "ENSP00000337804.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2223,
"cds_start": -4,
"cds_end": null,
"cds_length": 6672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7203,
"mane_select": "NM_206996.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "WDR3",
"gene_hgnc_id": 12755,
"hgvs_c": "c.2269-127C>G",
"hgvs_p": null,
"transcript": "NM_006784.3",
"protein_id": "NP_006775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 943,
"cds_start": -4,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10004,
"mane_select": "ENST00000349139.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "WDR3",
"gene_hgnc_id": 12755,
"hgvs_c": "c.2269-127C>G",
"hgvs_p": null,
"transcript": "ENST00000349139.6",
"protein_id": "ENSP00000308179.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 943,
"cds_start": -4,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10004,
"mane_select": "NM_006784.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "n.424G>C",
"hgvs_p": null,
"transcript": "ENST00000466857.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "n.591G>C",
"hgvs_p": null,
"transcript": "ENST00000469128.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "n.597G>C",
"hgvs_p": null,
"transcript": "ENST00000478697.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "n.7056G>C",
"hgvs_p": null,
"transcript": "XR_946574.2",
"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": 7346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "XM_006710426.4",
"protein_id": "XP_006710489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2185,
"cds_start": -4,
"cds_end": null,
"cds_length": 6558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "XM_011540934.2",
"protein_id": "XP_011539236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": -4,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "XM_006710427.4",
"protein_id": "XP_006710490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2158,
"cds_start": -4,
"cds_end": null,
"cds_length": 6477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "XM_011540935.3",
"protein_id": "XP_011539237.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2110,
"cds_start": -4,
"cds_end": null,
"cds_length": 6333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "XM_011540936.3",
"protein_id": "XP_011539238.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1673,
"cds_start": -4,
"cds_end": null,
"cds_length": 5022,
"cdna_start": null,
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"cdna_length": 6277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "XM_011540937.3",
"protein_id": "XP_011539239.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1673,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "XM_047448734.1",
"protein_id": "XP_047304690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1673,
"cds_start": -4,
"cds_end": null,
"cds_length": 5022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "XM_006710428.4",
"protein_id": "XP_006710491.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1496,
"cds_start": -4,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "XM_011540939.3",
"protein_id": "XP_011539241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1496,
"cds_start": -4,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
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"cdna_length": 5307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "XM_011540942.3",
"protein_id": "XP_011539244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "XM_047448753.1",
"protein_id": "XP_047304709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
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"cds_length": 4389,
"cdna_start": null,
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"cdna_length": 5087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"hgvs_c": "c.*170G>C",
"hgvs_p": null,
"transcript": "XM_047448758.1",
"protein_id": "XP_047304714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1152,
"cds_start": -4,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPAG17",
"gene_hgnc_id": 26620,
"dbsnp": "rs2273581",
"frequency_reference_population": 0.03363774,
"hom_count_reference_population": 1467,
"allele_count_reference_population": 25924,
"gnomad_exomes_af": 0.0264543,
"gnomad_genomes_af": 0.0628418,
"gnomad_exomes_ac": 16363,
"gnomad_genomes_ac": 9561,
"gnomad_exomes_homalt": 746,
"gnomad_genomes_homalt": 721,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.422,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000336338.10",
"gene_symbol": "SPAG17",
"hgnc_id": 26620,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.*170G>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000349139.6",
"gene_symbol": "WDR3",
"hgnc_id": 12755,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2269-127C>G",
"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
}