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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: 15-25375672-CACA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=25375672&ref=CACA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 25375672,
"ref": "CACA",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000648336.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.151_153delTGT",
"hgvs_p": "p.Cys51del",
"transcript": "NM_130839.5",
"protein_id": "NP_570854.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 872,
"cds_start": 151,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 8728,
"mane_select": "ENST00000648336.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.151_153delTGT",
"hgvs_p": "p.Cys51del",
"transcript": "ENST00000648336.2",
"protein_id": "ENSP00000497572.2",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 872,
"cds_start": 151,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 8728,
"mane_select": "NM_130839.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.91_93delTGT",
"hgvs_p": "p.Cys31del",
"transcript": "ENST00000566215.5",
"protein_id": "ENSP00000457771.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 852,
"cds_start": 91,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 53,
"intron_rank_end": null,
"gene_symbol": "SNHG14",
"gene_hgnc_id": 37462,
"hgvs_c": "n.5767-43114_5767-43112delCAA",
"hgvs_p": null,
"transcript": "ENST00000424333.6",
"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": 7315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SNHG14",
"gene_hgnc_id": 37462,
"hgvs_c": "n.489-43114_489-43112delCAA",
"hgvs_p": null,
"transcript": "ENST00000554726.2",
"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": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.160_162delTGT",
"hgvs_p": "p.Cys54del",
"transcript": "NM_000462.5",
"protein_id": "NP_000453.2",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 875,
"cds_start": 160,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.160_162delTGT",
"hgvs_p": "p.Cys54del",
"transcript": "ENST00000650110.1",
"protein_id": "ENSP00000497594.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 875,
"cds_start": 160,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.151_153delTGT",
"hgvs_p": "p.Cys51del",
"transcript": "NM_001354505.1",
"protein_id": "NP_001341434.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 872,
"cds_start": 151,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 4863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.151_153delTGT",
"hgvs_p": "p.Cys51del",
"transcript": "NM_001354538.2",
"protein_id": "NP_001341467.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 872,
"cds_start": 151,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 8764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.151_153delTGT",
"hgvs_p": "p.Cys51del",
"transcript": "ENST00000637886.1",
"protein_id": "ENSP00000490258.1",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 872,
"cds_start": 151,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 8725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.91_93delTGT",
"hgvs_p": "p.Cys31del",
"transcript": "NM_001354506.2",
"protein_id": "NP_001341435.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 852,
"cds_start": 91,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 8864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.91_93delTGT",
"hgvs_p": "p.Cys31del",
"transcript": "NM_001354507.2",
"protein_id": "NP_001341436.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 852,
"cds_start": 91,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 8960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.91_93delTGT",
"hgvs_p": "p.Cys31del",
"transcript": "NM_001354508.2",
"protein_id": "NP_001341437.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 852,
"cds_start": 91,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 8924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.91_93delTGT",
"hgvs_p": "p.Cys31del",
"transcript": "NM_001354509.2",
"protein_id": "NP_001341438.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 852,
"cds_start": 91,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 9037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.91_93delTGT",
"hgvs_p": "p.Cys31del",
"transcript": "NM_001354511.2",
"protein_id": "NP_001341440.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 852,
"cds_start": 91,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 8874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.91_93delTGT",
"hgvs_p": "p.Cys31del",
"transcript": "NM_001354512.2",
"protein_id": "NP_001341441.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 852,
"cds_start": 91,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 8890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.91_93delTGT",
"hgvs_p": "p.Cys31del",
"transcript": "NM_001354513.2",
"protein_id": "NP_001341442.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 852,
"cds_start": 91,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 8894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.91_93delTGT",
"hgvs_p": "p.Cys31del",
"transcript": "NM_001354523.2",
"protein_id": "NP_001341452.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 852,
"cds_start": 91,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 8841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.91_93delTGT",
"hgvs_p": "p.Cys31del",
"transcript": "NM_001354526.1",
"protein_id": "NP_001341455.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 852,
"cds_start": 91,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.91_93delTGT",
"hgvs_p": "p.Cys31del",
"transcript": "NM_001354539.2",
"protein_id": "NP_001341468.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 852,
"cds_start": 91,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 8799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.91_93delTGT",
"hgvs_p": "p.Cys31del",
"transcript": "NM_001354540.2",
"protein_id": "NP_001341469.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 852,
"cds_start": 91,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 9154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.91_93delTGT",
"hgvs_p": "p.Cys31del",
"transcript": "NM_001354541.2",
"protein_id": "NP_001341470.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 852,
"cds_start": 91,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 8989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
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{
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],
"verdict": "Uncertain_significance",
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},
{
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],
"verdict": "Uncertain_significance",
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],
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}
],
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}