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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: 14-77327954-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77327954&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 77327954,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000216465.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.259C>A",
"hgvs_p": "p.Arg87Arg",
"transcript": "NM_145870.3",
"protein_id": "NP_665877.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 216,
"cds_start": 259,
"cds_end": null,
"cds_length": 651,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": "ENST00000216465.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.259C>A",
"hgvs_p": "p.Arg87Arg",
"transcript": "ENST00000216465.10",
"protein_id": "ENSP00000216465.5",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 216,
"cds_start": 259,
"cds_end": null,
"cds_length": 651,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": "NM_145870.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Arg32Arg",
"transcript": "ENST00000361389.8",
"protein_id": "ENSP00000354959.4",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 161,
"cds_start": 94,
"cds_end": null,
"cds_length": 486,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "n.788C>A",
"hgvs_p": null,
"transcript": "ENST00000553838.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.262C>A",
"hgvs_p": "p.Arg88Arg",
"transcript": "NM_001363703.2",
"protein_id": "NP_001350632.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 217,
"cds_start": 262,
"cds_end": null,
"cds_length": 654,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.262C>A",
"hgvs_p": "p.Arg88Arg",
"transcript": "ENST00000553586.5",
"protein_id": "ENSP00000451976.1",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 217,
"cds_start": 262,
"cds_end": null,
"cds_length": 654,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.217C>A",
"hgvs_p": "p.Arg73Arg",
"transcript": "ENST00000554279.5",
"protein_id": "ENSP00000452498.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 202,
"cds_start": 217,
"cds_end": null,
"cds_length": 609,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Arg60Arg",
"transcript": "ENST00000556627.5",
"protein_id": "ENSP00000450487.1",
"transcript_support_level": 3,
"aa_start": 60,
"aa_end": null,
"aa_length": 189,
"cds_start": 178,
"cds_end": null,
"cds_length": 570,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Arg32Arg",
"transcript": "NM_001312660.2",
"protein_id": "NP_001299589.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 161,
"cds_start": 94,
"cds_end": null,
"cds_length": 486,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 1372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Arg32Arg",
"transcript": "ENST00000393734.5",
"protein_id": "ENSP00000377335.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 161,
"cds_start": 94,
"cds_end": null,
"cds_length": 486,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Arg32Arg",
"transcript": "ENST00000557639.5",
"protein_id": "ENSP00000451927.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 161,
"cds_start": 94,
"cds_end": null,
"cds_length": 486,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Arg32Arg",
"transcript": "ENST00000554846.5",
"protein_id": "ENSP00000452531.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 58,
"cds_start": 94,
"cds_end": null,
"cds_length": 177,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Arg32Arg",
"transcript": "ENST00000555583.1",
"protein_id": "ENSP00000452346.1",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 37,
"cds_start": 94,
"cds_end": null,
"cds_length": 114,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Arg32Arg",
"transcript": "XM_024449551.2",
"protein_id": "XP_024305319.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 161,
"cds_start": 94,
"cds_end": null,
"cds_length": 486,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Arg32Arg",
"transcript": "XM_024449552.2",
"protein_id": "XP_024305320.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 161,
"cds_start": 94,
"cds_end": null,
"cds_length": 486,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "n.390C>A",
"hgvs_p": null,
"transcript": "ENST00000553431.5",
"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": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "n.4667C>A",
"hgvs_p": null,
"transcript": "ENST00000555093.1",
"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": 5356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.216+402C>A",
"hgvs_p": null,
"transcript": "NM_145871.3",
"protein_id": "NP_665878.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.216+402C>A",
"hgvs_p": null,
"transcript": "ENST00000349555.7",
"protein_id": "ENSP00000314404.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.51+402C>A",
"hgvs_p": null,
"transcript": "ENST00000557053.5",
"protein_id": "ENSP00000451150.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": -4,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "c.219+402C>A",
"hgvs_p": null,
"transcript": "XM_011536671.3",
"protein_id": "XP_011534973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "n.-36C>A",
"hgvs_p": null,
"transcript": "ENST00000554381.1",
"protein_id": "ENSP00000451850.1",
"transcript_support_level": 3,
"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": 729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"hgvs_c": "n.*168C>A",
"hgvs_p": null,
"transcript": "ENST00000556914.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GSTZ1",
"gene_hgnc_id": 4643,
"dbsnp": "rs747265163",
"frequency_reference_population": 6.8417893e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84179e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.737,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000216465.10",
"gene_symbol": "GSTZ1",
"hgnc_id": 4643,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.259C>A",
"hgvs_p": "p.Arg87Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}