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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: 10-46584559-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=46584559&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 46584559,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_031912.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Thr296Lys",
"transcript": "NM_031912.5",
"protein_id": "NP_114118.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 421,
"cds_start": 887,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374321.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031912.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Thr296Lys",
"transcript": "ENST00000374321.9",
"protein_id": "ENSP00000363441.4",
"transcript_support_level": 2,
"aa_start": 296,
"aa_end": null,
"aa_length": 421,
"cds_start": 887,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031912.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374321.9"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Thr296Lys",
"transcript": "ENST00000503753.5",
"protein_id": "ENSP00000427607.1",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 390,
"cds_start": 887,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503753.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.1046C>A",
"hgvs_p": "p.Thr349Lys",
"transcript": "ENST00000374323.8",
"protein_id": "ENSP00000363443.3",
"transcript_support_level": 2,
"aa_start": 349,
"aa_end": null,
"aa_length": 474,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374323.8"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.878C>A",
"hgvs_p": "p.Thr293Lys",
"transcript": "ENST00000907761.1",
"protein_id": "ENSP00000577820.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 418,
"cds_start": 878,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907761.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.857C>A",
"hgvs_p": "p.Thr286Lys",
"transcript": "ENST00000907760.1",
"protein_id": "ENSP00000577819.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 411,
"cds_start": 857,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907760.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Thr296Lys",
"transcript": "NM_181519.3",
"protein_id": "NP_852660.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 390,
"cds_start": 887,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181519.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.257C>A",
"hgvs_p": "p.Thr86Lys",
"transcript": "ENST00000374328.3",
"protein_id": "ENSP00000363448.3",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 180,
"cds_start": 257,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374328.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.908C>A",
"hgvs_p": "p.Thr303Lys",
"transcript": "XM_017016750.3",
"protein_id": "XP_016872239.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 428,
"cds_start": 908,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016750.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.857C>A",
"hgvs_p": "p.Thr286Lys",
"transcript": "XM_047425824.1",
"protein_id": "XP_047281780.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 411,
"cds_start": 857,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425824.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.908C>A",
"hgvs_p": "p.Thr303Lys",
"transcript": "XM_047425825.1",
"protein_id": "XP_047281781.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 397,
"cds_start": 908,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425825.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.908C>A",
"hgvs_p": "p.Thr303Lys",
"transcript": "XM_047425826.1",
"protein_id": "XP_047281782.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 397,
"cds_start": 908,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425826.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.908C>A",
"hgvs_p": "p.Thr303Lys",
"transcript": "XM_047425827.1",
"protein_id": "XP_047281783.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 397,
"cds_start": 908,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425827.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.908C>A",
"hgvs_p": "p.Thr303Lys",
"transcript": "XM_047425828.1",
"protein_id": "XP_047281784.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 397,
"cds_start": 908,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425828.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Thr296Lys",
"transcript": "XM_006718011.3",
"protein_id": "XP_006718074.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 390,
"cds_start": 887,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718011.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Thr296Lys",
"transcript": "XM_017016751.3",
"protein_id": "XP_016872240.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 390,
"cds_start": 887,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016751.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.857C>A",
"hgvs_p": "p.Thr286Lys",
"transcript": "XM_047425829.1",
"protein_id": "XP_047281785.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 380,
"cds_start": 857,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425829.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.908C>A",
"hgvs_p": "p.Thr303Lys",
"transcript": "XM_047425830.1",
"protein_id": "XP_047281786.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 368,
"cds_start": 908,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425830.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Thr296Lys",
"transcript": "XM_047425831.1",
"protein_id": "XP_047281787.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 361,
"cds_start": 887,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425831.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYT15-AS1",
"gene_hgnc_id": 56167,
"hgvs_c": "n.313-1421G>T",
"hgvs_p": null,
"transcript": "ENST00000506914.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000506914.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYT15-AS1",
"gene_hgnc_id": 56167,
"hgvs_c": "n.318-1421G>T",
"hgvs_p": null,
"transcript": "ENST00000659936.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000659936.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYT15-AS1",
"gene_hgnc_id": 56167,
"hgvs_c": "n.313-1421G>T",
"hgvs_p": null,
"transcript": "NR_155739.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_155739.1"
}
],
"gene_symbol": "SYT15",
"gene_hgnc_id": 17167,
"dbsnp": "rs376045908",
"frequency_reference_population": 0.0000131672505,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131673,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5176551938056946,
"computational_prediction_selected": "Uncertain_significance",
"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": 0.8649,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.324,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031912.5",
"gene_symbol": "SYT15",
"hgnc_id": 17167,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Thr296Lys"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000506914.1",
"gene_symbol": "SYT15-AS1",
"hgnc_id": 56167,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.313-1421G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}