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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: 13-36329415-GT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=36329415&ref=GT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 36329415,
"ref": "GT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000438666.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "NM_015087.5",
"protein_id": "NP_055902.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "ENST00000438666.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "ENST00000438666.7",
"protein_id": "ENSP00000406061.2",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "NM_015087.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "ENST00000451493.5",
"protein_id": "ENSP00000414147.1",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "ENST00000494062.2",
"protein_id": "ENSP00000473599.1",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "NM_001142294.2",
"protein_id": "NP_001135766.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 4822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "NM_001142295.2",
"protein_id": "NP_001135767.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 4893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "NM_001142296.2",
"protein_id": "NP_001135768.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "ENST00000355182.8",
"protein_id": "ENSP00000347314.4",
"transcript_support_level": 5,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "ENST00000650221.1",
"protein_id": "ENSP00000497209.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 4881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "XM_005266313.6",
"protein_id": "XP_005266370.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "XM_005266314.4",
"protein_id": "XP_005266371.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "XM_005266315.4",
"protein_id": "XP_005266372.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 4852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "XM_005266317.4",
"protein_id": "XP_005266374.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 4780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "XM_011535012.3",
"protein_id": "XP_011533314.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
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"cdna_start": 1193,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "XM_024449334.2",
"protein_id": "XP_024305102.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "XM_047430209.1",
"protein_id": "XP_047286165.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
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"cdna_start": 1276,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "XM_047430210.1",
"protein_id": "XP_047286166.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "XM_047430211.1",
"protein_id": "XP_047286167.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "XM_047430212.1",
"protein_id": "XP_047286168.1",
"transcript_support_level": null,
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"aa_end": null,
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"cdna_start": 1579,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs",
"transcript": "XM_047430213.1",
"protein_id": "XP_047286169.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 666,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "n.1171delA",
"hgvs_p": null,
"transcript": "ENST00000495510.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "n.1282delA",
"hgvs_p": null,
"transcript": "XR_007063671.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"dbsnp": "rs1060499524",
"frequency_reference_population": 0.000003097951,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205223,
"gnomad_genomes_af": 0.0000131456,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.309,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000438666.7",
"gene_symbol": "SPART",
"hgnc_id": 18514,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1110delA",
"hgvs_p": "p.Lys370fs"
}
],
"clinvar_disease": "SPART-related disorder,Troyer syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Troyer syndrome|not provided|SPART-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}