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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: 15-44595462-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=44595462&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 44595462,
"ref": "G",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000261866.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.4435-3C>G",
"hgvs_p": null,
"transcript": "NM_025137.4",
"protein_id": "NP_079413.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2443,
"cds_start": -4,
"cds_end": null,
"cds_length": 7332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7772,
"mane_select": "ENST00000261866.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.4435-3C>G",
"hgvs_p": null,
"transcript": "ENST00000261866.12",
"protein_id": "ENSP00000261866.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2443,
"cds_start": -4,
"cds_end": null,
"cds_length": 7332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7772,
"mane_select": "NM_025137.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.4435-3C>G",
"hgvs_p": null,
"transcript": "ENST00000535302.6",
"protein_id": "ENSP00000445278.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2330,
"cds_start": -4,
"cds_end": null,
"cds_length": 6993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.4435-3C>G",
"hgvs_p": null,
"transcript": "ENST00000427534.6",
"protein_id": "ENSP00000396110.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2265,
"cds_start": -4,
"cds_end": null,
"cds_length": 6798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.4435-3C>G",
"hgvs_p": null,
"transcript": "NM_001411132.1",
"protein_id": "NP_001398061.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2395,
"cds_start": -4,
"cds_end": null,
"cds_length": 7188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.4435-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682065.1",
"protein_id": "ENSP00000507025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2395,
"cds_start": -4,
"cds_end": null,
"cds_length": 7188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.4435-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684235.1",
"protein_id": "ENSP00000508295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2392,
"cds_start": -4,
"cds_end": null,
"cds_length": 7179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.4234-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682669.1",
"protein_id": "ENSP00000507782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2376,
"cds_start": -4,
"cds_end": null,
"cds_length": 7131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.4435-3C>G",
"hgvs_p": null,
"transcript": "NM_001160227.2",
"protein_id": "NP_001153699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2330,
"cds_start": -4,
"cds_end": null,
"cds_length": 6993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.4435-3C>G",
"hgvs_p": null,
"transcript": "ENST00000559511.6",
"protein_id": "ENSP00000453246.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 2284,
"cds_start": -4,
"cds_end": null,
"cds_length": 6855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.4435-3C>G",
"hgvs_p": null,
"transcript": "ENST00000558319.5",
"protein_id": "ENSP00000453599.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2079,
"cds_start": -4,
"cds_end": null,
"cds_length": 6240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.663-3C>G",
"hgvs_p": null,
"transcript": "ENST00000561391.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*855-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682460.1",
"protein_id": "ENSP00000508334.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 7691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*927-3C>G",
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"transcript": "ENST00000682495.1",
"protein_id": "ENSP00000507166.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.4435-3C>G",
"hgvs_p": null,
"transcript": "ENST00000682788.1",
"protein_id": "ENSP00000508089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.4457+598C>G",
"hgvs_p": null,
"transcript": "ENST00000683121.1",
"protein_id": "ENSP00000507557.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*1198-3C>G",
"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": -4,
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"cdna_length": 7578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.4435-3C>G",
"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": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.4435-3C>G",
"hgvs_p": null,
"transcript": "ENST00000683734.1",
"protein_id": "ENSP00000508319.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.3481-3C>G",
"hgvs_p": null,
"transcript": "ENST00000683753.1",
"protein_id": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*855-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684038.1",
"protein_id": "ENSP00000507141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.4435-3C>G",
"hgvs_p": null,
"transcript": "ENST00000684676.1",
"protein_id": "ENSP00000506948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
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],
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"splice_prediction_selected": "Pathogenic",
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"phylop100way_prediction": "Benign",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_score": 4,
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"acmg_by_gene": [
{
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000261866.12",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}