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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: 11-65537051-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65537051&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65537051,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000270176.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Gln628*",
"transcript": "NM_020680.4",
"protein_id": "NP_065731.3",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 808,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": "ENST00000270176.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Gln628*",
"transcript": "ENST00000270176.10",
"protein_id": "ENSP00000270176.5",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 808,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": "NM_020680.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Gln611*",
"transcript": "ENST00000420247.6",
"protein_id": "ENSP00000408192.2",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 791,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Gln628*",
"transcript": "ENST00000524944.5",
"protein_id": "ENSP00000432175.1",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 775,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Gln627*",
"transcript": "NM_001425179.1",
"protein_id": "NP_001412108.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 807,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Gln627*",
"transcript": "NM_001425180.1",
"protein_id": "NP_001412109.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 807,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Gln628*",
"transcript": "NM_001425181.1",
"protein_id": "NP_001412110.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 807,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Gln627*",
"transcript": "NM_001425182.1",
"protein_id": "NP_001412111.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 806,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Gln611*",
"transcript": "NM_001048218.2",
"protein_id": "NP_001041683.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 791,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.Gln610*",
"transcript": "NM_001425183.1",
"protein_id": "NP_001412112.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 790,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Gln611*",
"transcript": "NM_001425184.1",
"protein_id": "NP_001412113.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 790,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Gln628*",
"transcript": "NM_001425185.1",
"protein_id": "NP_001412114.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 787,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Gln628*",
"transcript": "ENST00000533862.5",
"protein_id": "ENSP00000437254.1",
"transcript_support_level": 5,
"aa_start": 628,
"aa_end": null,
"aa_length": 787,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Gln628*",
"transcript": "NM_001425186.1",
"protein_id": "NP_001412115.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 786,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1804C>T",
"hgvs_p": "p.Gln602*",
"transcript": "NM_001425187.1",
"protein_id": "NP_001412116.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 782,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Gln628*",
"transcript": "NM_001425188.1",
"protein_id": "NP_001412117.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 781,
"cds_start": 1882,
"cds_end": null,
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"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Gln628*",
"transcript": "NM_001411022.1",
"protein_id": "NP_001397951.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 780,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Gln600*",
"transcript": "NM_001425189.1",
"protein_id": "NP_001412118.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 780,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Gln627*",
"transcript": "NM_001425190.1",
"protein_id": "NP_001412119.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 780,
"cds_start": 1879,
"cds_end": null,
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"cdna_start": 1950,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Gln628*",
"transcript": "ENST00000525364.5",
"protein_id": "ENSP00000431635.1",
"transcript_support_level": 5,
"aa_start": 628,
"aa_end": null,
"aa_length": 780,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1768C>T",
"hgvs_p": "p.Gln590*",
"transcript": "NM_001425191.1",
"protein_id": "NP_001412120.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 770,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Gln611*",
"transcript": "NM_001425192.1",
"protein_id": "NP_001412121.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 770,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1750C>T",
"hgvs_p": "p.Gln584*",
"transcript": "NM_001425193.1",
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23263192176818848,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.085,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.199,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000270176.10",
"gene_symbol": "SCYL1",
"hgnc_id": 14372,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Gln628*"
}
],
"clinvar_disease": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}