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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: 16-4858609-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4858609&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4858609,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001079514.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "NM_001079514.3",
"protein_id": "NP_001072982.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1134,
"cds_start": 378,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262376.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079514.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "ENST00000262376.11",
"protein_id": "ENSP00000262376.5",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 1134,
"cds_start": 378,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001079514.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262376.11"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "ENST00000396658.8",
"protein_id": "ENSP00000379894.3",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 1134,
"cds_start": 378,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396658.8"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.351C>T",
"hgvs_p": "p.Ile117Ile",
"transcript": "ENST00000931634.1",
"protein_id": "ENSP00000601693.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1125,
"cds_start": 351,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931634.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "NM_001288656.1",
"protein_id": "NP_001275585.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1104,
"cds_start": 378,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288656.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "ENST00000590769.5",
"protein_id": "ENSP00000468740.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 1104,
"cds_start": 378,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590769.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "ENST00000879302.1",
"protein_id": "ENSP00000549361.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1104,
"cds_start": 378,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879302.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "ENST00000592120.5",
"protein_id": "ENSP00000467942.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 178,
"cds_start": 378,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592120.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "XM_005255277.5",
"protein_id": "XP_005255334.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1161,
"cds_start": 378,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255277.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "XM_005255278.4",
"protein_id": "XP_005255335.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1161,
"cds_start": 378,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255278.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "XM_047434037.1",
"protein_id": "XP_047289993.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1134,
"cds_start": 378,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434037.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "XM_005255279.5",
"protein_id": "XP_005255336.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1112,
"cds_start": 378,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255279.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "XM_047434038.1",
"protein_id": "XP_047289994.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1112,
"cds_start": 378,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434038.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "XM_017023190.3",
"protein_id": "XP_016878679.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1085,
"cds_start": 378,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023190.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "XM_047434039.1",
"protein_id": "XP_047289995.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1085,
"cds_start": 378,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434039.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "XM_011522465.3",
"protein_id": "XP_011520767.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1063,
"cds_start": 378,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522465.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "XM_047434040.1",
"protein_id": "XP_047289996.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 1014,
"cds_start": 378,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434040.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "XM_017023192.3",
"protein_id": "XP_016878681.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 578,
"cds_start": 378,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023192.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"transcript": "XM_011522467.3",
"protein_id": "XP_011520769.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 569,
"cds_start": 378,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522467.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "n.36C>T",
"hgvs_p": null,
"transcript": "ENST00000587027.1",
"protein_id": "ENSP00000468143.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000587027.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "n.1147C>T",
"hgvs_p": null,
"transcript": "XR_007064874.1",
"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": "XR_007064874.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "n.1147C>T",
"hgvs_p": null,
"transcript": "XR_007064875.1",
"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": "XR_007064875.1"
}
],
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"dbsnp": "rs760598275",
"frequency_reference_population": 0.000030359319,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000314666,
"gnomad_genomes_af": 0.0000197192,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.27000001072883606,
"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": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.718,
"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_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001079514.3",
"gene_symbol": "UBN1",
"hgnc_id": 12506,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}