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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: 16-67394893-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67394893&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67394893,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_013304.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Gly389Glu",
"transcript": "NM_001323627.2",
"protein_id": "NP_001310556.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 482,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000565726.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323627.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Gly389Glu",
"transcript": "ENST00000565726.3",
"protein_id": "ENSP00000459264.2",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 482,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001323627.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565726.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Gly411Ser",
"transcript": "ENST00000348579.6",
"protein_id": "ENSP00000340299.2",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 485,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348579.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Gly411Ser",
"transcript": "NM_013304.3",
"protein_id": "NP_037436.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 485,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013304.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Gly389Glu",
"transcript": "ENST00000902881.1",
"protein_id": "ENSP00000572940.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 482,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902881.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Gly389Glu",
"transcript": "ENST00000923152.1",
"protein_id": "ENSP00000593211.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 482,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923152.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Gly389Glu",
"transcript": "ENST00000963869.1",
"protein_id": "ENSP00000633928.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 482,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963869.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Gly389Glu",
"transcript": "ENST00000963870.1",
"protein_id": "ENSP00000633929.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 482,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963870.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Gly388Glu",
"transcript": "ENST00000902882.1",
"protein_id": "ENSP00000572941.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 481,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902882.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Gly387Glu",
"transcript": "ENST00000902878.1",
"protein_id": "ENSP00000572937.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 480,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902878.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Gly376Glu",
"transcript": "ENST00000902879.1",
"protein_id": "ENSP00000572938.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 469,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902879.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1124G>A",
"hgvs_p": "p.Gly375Glu",
"transcript": "ENST00000902883.1",
"protein_id": "ENSP00000572942.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 468,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902883.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Gly336Glu",
"transcript": "ENST00000902880.1",
"protein_id": "ENSP00000572939.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 429,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902880.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Gly287Glu",
"transcript": "ENST00000923151.1",
"protein_id": "ENSP00000593210.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 380,
"cds_start": 860,
"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": "ENST00000923151.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Gly411Ser",
"transcript": "XM_024450245.2",
"protein_id": "XP_024306013.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 485,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450245.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Gly396Ser",
"transcript": "XM_006721185.3",
"protein_id": "XP_006721248.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 470,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721185.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Gly376Glu",
"transcript": "XM_024450246.2",
"protein_id": "XP_024306014.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 469,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450246.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Gly358Ser",
"transcript": "XM_024450247.2",
"protein_id": "XP_024306015.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 432,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450247.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Gly326Ser",
"transcript": "XM_011523060.2",
"protein_id": "XP_011521362.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 400,
"cds_start": 976,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523060.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"hgvs_c": "n.721G>A",
"hgvs_p": null,
"transcript": "ENST00000566075.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000566075.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299506",
"gene_hgnc_id": null,
"hgvs_c": "n.*192C>T",
"hgvs_p": null,
"transcript": "ENST00000764121.1",
"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": "ENST00000764121.1"
}
],
"gene_symbol": "ZDHHC1",
"gene_hgnc_id": 17916,
"dbsnp": "rs749577256",
"frequency_reference_population": 0.00001630595,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.000016306,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0589180588722229,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2280000001192093,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.1602,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.064,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0048264544593644,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_013304.3",
"gene_symbol": "ZDHHC1",
"hgnc_id": 17916,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Gly411Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000764121.1",
"gene_symbol": "ENSG00000299506",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*192C>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
}