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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: 15-44563205-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=44563205&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 44563205,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_025137.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.7248C>G",
"hgvs_p": "p.Tyr2416*",
"transcript": "NM_025137.4",
"protein_id": "NP_079413.3",
"transcript_support_level": null,
"aa_start": 2416,
"aa_end": null,
"aa_length": 2443,
"cds_start": 7248,
"cds_end": null,
"cds_length": 7332,
"cdna_start": 7263,
"cdna_end": null,
"cdna_length": 7772,
"mane_select": "ENST00000261866.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025137.4"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.7248C>G",
"hgvs_p": "p.Tyr2416*",
"transcript": "ENST00000261866.12",
"protein_id": "ENSP00000261866.7",
"transcript_support_level": 1,
"aa_start": 2416,
"aa_end": null,
"aa_length": 2443,
"cds_start": 7248,
"cds_end": null,
"cds_length": 7332,
"cdna_start": 7263,
"cdna_end": null,
"cdna_length": 7772,
"mane_select": "NM_025137.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261866.12"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6909C>G",
"hgvs_p": "p.Tyr2303*",
"transcript": "ENST00000535302.6",
"protein_id": "ENSP00000445278.2",
"transcript_support_level": 1,
"aa_start": 2303,
"aa_end": null,
"aa_length": 2330,
"cds_start": 6909,
"cds_end": null,
"cds_length": 6993,
"cdna_start": 6937,
"cdna_end": null,
"cdna_length": 7288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535302.6"
},
{
"aa_ref": null,
"aa_alt": null,
"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": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.*53C>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": null,
"cds_end": null,
"cds_length": 6798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427534.6"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.7314C>G",
"hgvs_p": "p.Tyr2438*",
"transcript": "ENST00000920242.1",
"protein_id": "ENSP00000590301.1",
"transcript_support_level": null,
"aa_start": 2438,
"aa_end": null,
"aa_length": 2465,
"cds_start": 7314,
"cds_end": null,
"cds_length": 7398,
"cdna_start": 7322,
"cdna_end": null,
"cdna_length": 7831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920242.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.7140C>G",
"hgvs_p": "p.Tyr2380*",
"transcript": "ENST00000920240.1",
"protein_id": "ENSP00000590299.1",
"transcript_support_level": null,
"aa_start": 2380,
"aa_end": null,
"aa_length": 2407,
"cds_start": 7140,
"cds_end": null,
"cds_length": 7224,
"cdna_start": 7170,
"cdna_end": null,
"cdna_length": 7679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920240.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.7104C>G",
"hgvs_p": "p.Tyr2368*",
"transcript": "NM_001411132.1",
"protein_id": "NP_001398061.1",
"transcript_support_level": null,
"aa_start": 2368,
"aa_end": null,
"aa_length": 2395,
"cds_start": 7104,
"cds_end": null,
"cds_length": 7188,
"cdna_start": 7119,
"cdna_end": null,
"cdna_length": 7628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411132.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.7104C>G",
"hgvs_p": "p.Tyr2368*",
"transcript": "ENST00000682065.1",
"protein_id": "ENSP00000507025.1",
"transcript_support_level": null,
"aa_start": 2368,
"aa_end": null,
"aa_length": 2395,
"cds_start": 7104,
"cds_end": null,
"cds_length": 7188,
"cdna_start": 7135,
"cdna_end": null,
"cdna_length": 7624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682065.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.7047C>G",
"hgvs_p": "p.Tyr2349*",
"transcript": "ENST00000682669.1",
"protein_id": "ENSP00000507782.1",
"transcript_support_level": null,
"aa_start": 2349,
"aa_end": null,
"aa_length": 2376,
"cds_start": 7047,
"cds_end": null,
"cds_length": 7131,
"cdna_start": 7078,
"cdna_end": null,
"cdna_length": 7567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682669.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6990C>G",
"hgvs_p": "p.Tyr2330*",
"transcript": "ENST00000920241.1",
"protein_id": "ENSP00000590300.1",
"transcript_support_level": null,
"aa_start": 2330,
"aa_end": null,
"aa_length": 2357,
"cds_start": 6990,
"cds_end": null,
"cds_length": 7074,
"cdna_start": 7016,
"cdna_end": null,
"cdna_length": 7524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920241.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6909C>G",
"hgvs_p": "p.Tyr2303*",
"transcript": "NM_001160227.2",
"protein_id": "NP_001153699.1",
"transcript_support_level": null,
"aa_start": 2303,
"aa_end": null,
"aa_length": 2330,
"cds_start": 6909,
"cds_end": null,
"cds_length": 6993,
"cdna_start": 6924,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160227.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6771C>G",
"hgvs_p": "p.Tyr2257*",
"transcript": "ENST00000559511.6",
"protein_id": "ENSP00000453246.2",
"transcript_support_level": 2,
"aa_start": 2257,
"aa_end": null,
"aa_length": 2284,
"cds_start": 6771,
"cds_end": null,
"cds_length": 6855,
"cdna_start": 6771,
"cdna_end": null,
"cdna_length": 7279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559511.6"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.939C>G",
"hgvs_p": "p.Tyr313*",
"transcript": "ENST00000558138.2",
"protein_id": "ENSP00000453314.2",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 340,
"cds_start": 939,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558138.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6645C>G",
"hgvs_p": "p.Tyr2215*",
"transcript": "XM_047433144.1",
"protein_id": "XP_047289100.1",
"transcript_support_level": null,
"aa_start": 2215,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6645,
"cds_end": null,
"cds_length": 6729,
"cdna_start": 7509,
"cdna_end": null,
"cdna_length": 8018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433144.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.4125C>G",
"hgvs_p": "p.Tyr1375*",
"transcript": "XM_047433146.1",
"protein_id": "XP_047289102.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1402,
"cds_start": 4125,
"cds_end": null,
"cds_length": 4209,
"cdna_start": 4229,
"cdna_end": null,
"cdna_length": 4738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433146.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.7151+1342C>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": null,
"cds_end": null,
"cds_length": 7179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684235.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*3505C>G",
"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": 7691,
"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": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*3740C>G",
"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": 7893,
"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": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*4011C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7578,
"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": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*890C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7425,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683496.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*1198C>G",
"hgvs_p": null,
"transcript": "ENST00000683734.1",
"protein_id": "ENSP00000508319.1",
"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": 7612,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683734.1"
},
{
"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": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.6294C>G",
"hgvs_p": null,
"transcript": "ENST00000683753.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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{
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"verdict": "Uncertain_significance",
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{
"score": 6,
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}