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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: 15-44567437-CTCAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=44567437&ref=CTCAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 44567437,
"ref": "CTCAA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_025137.4",
"consequences": [
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6737_6740delTTGA",
"hgvs_p": "p.Ile2246fs",
"transcript": "NM_025137.4",
"protein_id": "NP_079413.3",
"transcript_support_level": null,
"aa_start": 2246,
"aa_end": null,
"aa_length": 2443,
"cds_start": 6737,
"cds_end": null,
"cds_length": 7332,
"cdna_start": 6755,
"cdna_end": null,
"cdna_length": 7772,
"mane_select": "ENST00000261866.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025137.4"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6737_6740delTTGA",
"hgvs_p": "p.Ile2246fs",
"transcript": "ENST00000261866.12",
"protein_id": "ENSP00000261866.7",
"transcript_support_level": 1,
"aa_start": 2246,
"aa_end": null,
"aa_length": 2443,
"cds_start": 6737,
"cds_end": null,
"cds_length": 7332,
"cdna_start": 6755,
"cdna_end": null,
"cdna_length": 7772,
"mane_select": "NM_025137.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261866.12"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6398_6401delTTGA",
"hgvs_p": "p.Ile2133fs",
"transcript": "ENST00000535302.6",
"protein_id": "ENSP00000445278.2",
"transcript_support_level": 1,
"aa_start": 2133,
"aa_end": null,
"aa_length": 2330,
"cds_start": 6398,
"cds_end": null,
"cds_length": 6993,
"cdna_start": 6429,
"cdna_end": null,
"cdna_length": 7288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535302.6"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6737_6740delTTGA",
"hgvs_p": "p.Ile2246fs",
"transcript": "ENST00000427534.6",
"protein_id": "ENSP00000396110.2",
"transcript_support_level": 1,
"aa_start": 2246,
"aa_end": null,
"aa_length": 2265,
"cds_start": 6737,
"cds_end": null,
"cds_length": 6798,
"cdna_start": 6740,
"cdna_end": null,
"cdna_length": 6935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427534.6"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6803_6806delTTGA",
"hgvs_p": "p.Ile2268fs",
"transcript": "ENST00000920242.1",
"protein_id": "ENSP00000590301.1",
"transcript_support_level": null,
"aa_start": 2268,
"aa_end": null,
"aa_length": 2465,
"cds_start": 6803,
"cds_end": null,
"cds_length": 7398,
"cdna_start": 6814,
"cdna_end": null,
"cdna_length": 7831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920242.1"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6629_6632delTTGA",
"hgvs_p": "p.Ile2210fs",
"transcript": "ENST00000920240.1",
"protein_id": "ENSP00000590299.1",
"transcript_support_level": null,
"aa_start": 2210,
"aa_end": null,
"aa_length": 2407,
"cds_start": 6629,
"cds_end": null,
"cds_length": 7224,
"cdna_start": 6662,
"cdna_end": null,
"cdna_length": 7679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920240.1"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6593_6596delTTGA",
"hgvs_p": "p.Ile2198fs",
"transcript": "NM_001411132.1",
"protein_id": "NP_001398061.1",
"transcript_support_level": null,
"aa_start": 2198,
"aa_end": null,
"aa_length": 2395,
"cds_start": 6593,
"cds_end": null,
"cds_length": 7188,
"cdna_start": 6611,
"cdna_end": null,
"cdna_length": 7628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411132.1"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6593_6596delTTGA",
"hgvs_p": "p.Ile2198fs",
"transcript": "ENST00000682065.1",
"protein_id": "ENSP00000507025.1",
"transcript_support_level": null,
"aa_start": 2198,
"aa_end": null,
"aa_length": 2395,
"cds_start": 6593,
"cds_end": null,
"cds_length": 7188,
"cdna_start": 6627,
"cdna_end": null,
"cdna_length": 7624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682065.1"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6737_6740delTTGA",
"hgvs_p": "p.Ile2246fs",
"transcript": "ENST00000684235.1",
"protein_id": "ENSP00000508295.1",
"transcript_support_level": null,
"aa_start": 2246,
"aa_end": null,
"aa_length": 2392,
"cds_start": 6737,
"cds_end": null,
"cds_length": 7179,
"cdna_start": 6771,
"cdna_end": null,
"cdna_length": 7574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684235.1"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6536_6539delTTGA",
"hgvs_p": "p.Ile2179fs",
"transcript": "ENST00000682669.1",
"protein_id": "ENSP00000507782.1",
"transcript_support_level": null,
"aa_start": 2179,
"aa_end": null,
"aa_length": 2376,
"cds_start": 6536,
"cds_end": null,
"cds_length": 7131,
"cdna_start": 6570,
"cdna_end": null,
"cdna_length": 7567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682669.1"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6479_6482delTTGA",
"hgvs_p": "p.Ile2160fs",
"transcript": "ENST00000920241.1",
"protein_id": "ENSP00000590300.1",
"transcript_support_level": null,
"aa_start": 2160,
"aa_end": null,
"aa_length": 2357,
"cds_start": 6479,
"cds_end": null,
"cds_length": 7074,
"cdna_start": 6508,
"cdna_end": null,
"cdna_length": 7524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920241.1"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6398_6401delTTGA",
"hgvs_p": "p.Ile2133fs",
"transcript": "NM_001160227.2",
"protein_id": "NP_001153699.1",
"transcript_support_level": null,
"aa_start": 2133,
"aa_end": null,
"aa_length": 2330,
"cds_start": 6398,
"cds_end": null,
"cds_length": 6993,
"cdna_start": 6416,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160227.2"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6260_6263delTTGA",
"hgvs_p": "p.Ile2087fs",
"transcript": "ENST00000559511.6",
"protein_id": "ENSP00000453246.2",
"transcript_support_level": 2,
"aa_start": 2087,
"aa_end": null,
"aa_length": 2284,
"cds_start": 6260,
"cds_end": null,
"cds_length": 6855,
"cdna_start": 6263,
"cdna_end": null,
"cdna_length": 7279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559511.6"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.428_431delTTGA",
"hgvs_p": "p.Ile143fs",
"transcript": "ENST00000558138.2",
"protein_id": "ENSP00000453314.2",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 340,
"cds_start": 428,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558138.2"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6134_6137delTTGA",
"hgvs_p": "p.Ile2045fs",
"transcript": "XM_047433144.1",
"protein_id": "XP_047289100.1",
"transcript_support_level": null,
"aa_start": 2045,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6134,
"cds_end": null,
"cds_length": 6729,
"cdna_start": 7001,
"cdna_end": null,
"cdna_length": 8018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433144.1"
},
{
"aa_ref": "IE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.3614_3617delTTGA",
"hgvs_p": "p.Ile1205fs",
"transcript": "XM_047433146.1",
"protein_id": "XP_047289102.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1402,
"cds_start": 3614,
"cds_end": null,
"cds_length": 4209,
"cdna_start": 3721,
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.566_569delTTGA",
"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": 716,
"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.427_430delTTGA",
"hgvs_p": null,
"transcript": "ENST00000561268.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 530,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000561268.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*2994_*2997delTTGA",
"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": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*3229_*3232delTTGA",
"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": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*3500_*3503delTTGA",
"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": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*379_*382delTTGA",
"hgvs_p": null,
"transcript": "ENST00000683496.1",
"protein_id": "ENSP00000506968.1",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.069,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
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"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_025137.4",
"gene_symbol": "SPG11",
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"effects": [
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],
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"hgvs_p": "p.Ile2246fs"
}
],
"clinvar_disease": "Amyotrophic lateral sclerosis type 5,Charcot-Marie-Tooth disease axonal type 2X,Hereditary spastic paraplegia 11,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:2 O:1",
"phenotype_combined": "Hereditary spastic paraplegia 11|not provided|Charcot-Marie-Tooth disease axonal type 2X;Hereditary spastic paraplegia 11;Amyotrophic lateral sclerosis type 5",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}