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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: 15-25340114-AATC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=25340114&ref=AATC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 25340114,
"ref": "AATC",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_000462.5",
"consequences": [
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2466_2468delGAT",
"hgvs_p": "p.Met822del",
"transcript": "NM_130839.5",
"protein_id": "NP_570854.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 872,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000648336.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130839.5"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2466_2468delGAT",
"hgvs_p": "p.Met822del",
"transcript": "ENST00000648336.2",
"protein_id": "ENSP00000497572.2",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 872,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_130839.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648336.2"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2406_2408delGAT",
"hgvs_p": "p.Met802del",
"transcript": "ENST00000566215.5",
"protein_id": "ENSP00000457771.1",
"transcript_support_level": 1,
"aa_start": 802,
"aa_end": null,
"aa_length": 852,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566215.5"
},
{
"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.5766+61234_5766+61236delATC",
"hgvs_p": null,
"transcript": "ENST00000424333.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000424333.6"
},
{
"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.488+61234_488+61236delATC",
"hgvs_p": null,
"transcript": "ENST00000554726.2",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000554726.2"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2475_2477delGAT",
"hgvs_p": "p.Met825del",
"transcript": "NM_000462.5",
"protein_id": "NP_000453.2",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 875,
"cds_start": 2475,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000462.5"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2475_2477delGAT",
"hgvs_p": "p.Met825del",
"transcript": "ENST00000650110.1",
"protein_id": "ENSP00000497594.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 875,
"cds_start": 2475,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650110.1"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2466_2468delGAT",
"hgvs_p": "p.Met822del",
"transcript": "NM_001354505.1",
"protein_id": "NP_001341434.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 872,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354505.1"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2466_2468delGAT",
"hgvs_p": "p.Met822del",
"transcript": "NM_001354538.2",
"protein_id": "NP_001341467.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 872,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354538.2"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2466_2468delGAT",
"hgvs_p": "p.Met822del",
"transcript": "ENST00000637886.1",
"protein_id": "ENSP00000490258.1",
"transcript_support_level": 5,
"aa_start": 822,
"aa_end": null,
"aa_length": 872,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637886.1"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2466_2468delGAT",
"hgvs_p": "p.Met822del",
"transcript": "ENST00000858359.1",
"protein_id": "ENSP00000528418.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 872,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858359.1"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2466_2468delGAT",
"hgvs_p": "p.Met822del",
"transcript": "ENST00000858360.1",
"protein_id": "ENSP00000528419.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 872,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858360.1"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2466_2468delGAT",
"hgvs_p": "p.Met822del",
"transcript": "ENST00000918482.1",
"protein_id": "ENSP00000588541.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 872,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918482.1"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2466_2468delGAT",
"hgvs_p": "p.Met822del",
"transcript": "ENST00000918483.1",
"protein_id": "ENSP00000588542.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 872,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918483.1"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2466_2468delGAT",
"hgvs_p": "p.Met822del",
"transcript": "ENST00000970634.1",
"protein_id": "ENSP00000640693.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 872,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970634.1"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2466_2468delGAT",
"hgvs_p": "p.Met822del",
"transcript": "ENST00000970635.1",
"protein_id": "ENSP00000640694.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 872,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970635.1"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2466_2468delGAT",
"hgvs_p": "p.Met822del",
"transcript": "ENST00000970636.1",
"protein_id": "ENSP00000640695.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 872,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970636.1"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2406_2408delGAT",
"hgvs_p": "p.Met802del",
"transcript": "NM_001354506.2",
"protein_id": "NP_001341435.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 852,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354506.2"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2406_2408delGAT",
"hgvs_p": "p.Met802del",
"transcript": "NM_001354507.2",
"protein_id": "NP_001341436.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 852,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354507.2"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2406_2408delGAT",
"hgvs_p": "p.Met802del",
"transcript": "NM_001354508.2",
"protein_id": "NP_001341437.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 852,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354508.2"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.2406_2408delGAT",
"hgvs_p": "p.Met802del",
"transcript": "NM_001354509.2",
"protein_id": "NP_001341438.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 852,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354509.2"
},
{
"aa_ref": "MI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
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{
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"benign_score": 0,
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"PM2",
"PM4_Supporting",
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],
"verdict": "Likely_pathogenic",
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{
"score": 4,
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],
"verdict": "Uncertain_significance",
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Angelman syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}