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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: 15-44570611-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=44570611&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 44570611,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025137.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6391C>A",
"hgvs_p": "p.His2131Asn",
"transcript": "NM_025137.4",
"protein_id": "NP_079413.3",
"transcript_support_level": null,
"aa_start": 2131,
"aa_end": null,
"aa_length": 2443,
"cds_start": 6391,
"cds_end": null,
"cds_length": 7332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261866.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025137.4"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6391C>A",
"hgvs_p": "p.His2131Asn",
"transcript": "ENST00000261866.12",
"protein_id": "ENSP00000261866.7",
"transcript_support_level": 1,
"aa_start": 2131,
"aa_end": null,
"aa_length": 2443,
"cds_start": 6391,
"cds_end": null,
"cds_length": 7332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025137.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261866.12"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6052C>A",
"hgvs_p": "p.His2018Asn",
"transcript": "ENST00000535302.6",
"protein_id": "ENSP00000445278.2",
"transcript_support_level": 1,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2330,
"cds_start": 6052,
"cds_end": null,
"cds_length": 6993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535302.6"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6391C>A",
"hgvs_p": "p.His2131Asn",
"transcript": "ENST00000427534.6",
"protein_id": "ENSP00000396110.2",
"transcript_support_level": 1,
"aa_start": 2131,
"aa_end": null,
"aa_length": 2265,
"cds_start": 6391,
"cds_end": null,
"cds_length": 6798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427534.6"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6457C>A",
"hgvs_p": "p.His2153Asn",
"transcript": "ENST00000920242.1",
"protein_id": "ENSP00000590301.1",
"transcript_support_level": null,
"aa_start": 2153,
"aa_end": null,
"aa_length": 2465,
"cds_start": 6457,
"cds_end": null,
"cds_length": 7398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920242.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6391C>A",
"hgvs_p": "p.His2131Asn",
"transcript": "ENST00000920240.1",
"protein_id": "ENSP00000590299.1",
"transcript_support_level": null,
"aa_start": 2131,
"aa_end": null,
"aa_length": 2407,
"cds_start": 6391,
"cds_end": null,
"cds_length": 7224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920240.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6247C>A",
"hgvs_p": "p.His2083Asn",
"transcript": "NM_001411132.1",
"protein_id": "NP_001398061.1",
"transcript_support_level": null,
"aa_start": 2083,
"aa_end": null,
"aa_length": 2395,
"cds_start": 6247,
"cds_end": null,
"cds_length": 7188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411132.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6247C>A",
"hgvs_p": "p.His2083Asn",
"transcript": "ENST00000682065.1",
"protein_id": "ENSP00000507025.1",
"transcript_support_level": null,
"aa_start": 2083,
"aa_end": null,
"aa_length": 2395,
"cds_start": 6247,
"cds_end": null,
"cds_length": 7188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682065.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6391C>A",
"hgvs_p": "p.His2131Asn",
"transcript": "ENST00000684235.1",
"protein_id": "ENSP00000508295.1",
"transcript_support_level": null,
"aa_start": 2131,
"aa_end": null,
"aa_length": 2392,
"cds_start": 6391,
"cds_end": null,
"cds_length": 7179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684235.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6190C>A",
"hgvs_p": "p.His2064Asn",
"transcript": "ENST00000682669.1",
"protein_id": "ENSP00000507782.1",
"transcript_support_level": null,
"aa_start": 2064,
"aa_end": null,
"aa_length": 2376,
"cds_start": 6190,
"cds_end": null,
"cds_length": 7131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682669.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6133C>A",
"hgvs_p": "p.His2045Asn",
"transcript": "ENST00000920241.1",
"protein_id": "ENSP00000590300.1",
"transcript_support_level": null,
"aa_start": 2045,
"aa_end": null,
"aa_length": 2357,
"cds_start": 6133,
"cds_end": null,
"cds_length": 7074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920241.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6052C>A",
"hgvs_p": "p.His2018Asn",
"transcript": "NM_001160227.2",
"protein_id": "NP_001153699.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2330,
"cds_start": 6052,
"cds_end": null,
"cds_length": 6993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160227.2"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.5914C>A",
"hgvs_p": "p.His1972Asn",
"transcript": "ENST00000559511.6",
"protein_id": "ENSP00000453246.2",
"transcript_support_level": 2,
"aa_start": 1972,
"aa_end": null,
"aa_length": 2284,
"cds_start": 5914,
"cds_end": null,
"cds_length": 6855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559511.6"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.190C>A",
"hgvs_p": "p.His64Asn",
"transcript": "ENST00000558138.2",
"protein_id": "ENSP00000453314.2",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 340,
"cds_start": 190,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558138.2"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.5788C>A",
"hgvs_p": "p.His1930Asn",
"transcript": "XM_047433144.1",
"protein_id": "XP_047289100.1",
"transcript_support_level": null,
"aa_start": 1930,
"aa_end": null,
"aa_length": 2242,
"cds_start": 5788,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433144.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.3268C>A",
"hgvs_p": "p.His1090Asn",
"transcript": "XM_047433146.1",
"protein_id": "XP_047289102.1",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1402,
"cds_start": 3268,
"cds_end": null,
"cds_length": 4209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433146.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.220C>A",
"hgvs_p": null,
"transcript": "ENST00000559347.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000559347.1"
},
{
"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": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.460C>A",
"hgvs_p": null,
"transcript": "ENST00000559933.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000559933.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*2648C>A",
"hgvs_p": null,
"transcript": "ENST00000682460.1",
"protein_id": "ENSP00000508334.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000682460.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*2883C>A",
"hgvs_p": null,
"transcript": "ENST00000682495.1",
"protein_id": "ENSP00000507166.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000682495.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*3154C>A",
"hgvs_p": null,
"transcript": "ENST00000683186.1",
"protein_id": "ENSP00000507268.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000683186.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*33C>A",
"hgvs_p": null,
"transcript": "ENST00000683496.1",
"protein_id": "ENSP00000506968.1",
"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,
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],
"gene_symbol": "SPG11",
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"dbsnp": "rs775209503",
"frequency_reference_population": 0.000004337153,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000273633,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16647908091545105,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.2323,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.195,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025137.4",
"gene_symbol": "SPG11",
"hgnc_id": 11226,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6391C>A",
"hgvs_p": "p.His2131Asn"
}
],
"clinvar_disease": "Amyotrophic lateral sclerosis type 5,Charcot-Marie-Tooth disease axonal type 2X,Hereditary spastic paraplegia 11,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "Hereditary spastic paraplegia 11|not provided|Charcot-Marie-Tooth disease axonal type 2X|Amyotrophic lateral sclerosis type 5",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}