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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: 15-89305240-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89305240&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89305240,
"ref": "C",
"alt": "T",
"effect": "stop_gained,splice_region_variant",
"transcript": "ENST00000310775.12",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "NM_001113378.2",
"protein_id": "NP_001106849.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3258,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "ENST00000310775.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "ENST00000310775.12",
"protein_id": "ENSP00000310842.8",
"transcript_support_level": 1,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3258,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "NM_001113378.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "ENST00000674831.1",
"protein_id": "ENSP00000502474.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3184,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 3292,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "NM_001376911.1",
"protein_id": "NP_001363840.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3269,
"cdna_end": null,
"cdna_length": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "ENST00000696719.1",
"protein_id": "ENSP00000512832.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3360,
"cdna_end": null,
"cdna_length": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3142C>T",
"hgvs_p": "p.Gln1048*",
"transcript": "ENST00000676003.1",
"protein_id": "ENSP00000502254.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3325,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3004C>T",
"hgvs_p": "p.Gln1002*",
"transcript": "NM_018193.3",
"protein_id": "NP_060663.2",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3078,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3004C>T",
"hgvs_p": "p.Gln1002*",
"transcript": "ENST00000300027.12",
"protein_id": "ENSP00000300027.8",
"transcript_support_level": 5,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3108,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2905C>T",
"hgvs_p": "p.Gln969*",
"transcript": "NM_001376910.1",
"protein_id": "NP_001363839.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2905,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3264,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2905C>T",
"hgvs_p": "p.Gln969*",
"transcript": "ENST00000696717.1",
"protein_id": "ENSP00000512830.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2905,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3263,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2647C>T",
"hgvs_p": "p.Gln883*",
"transcript": "ENST00000696718.1",
"protein_id": "ENSP00000512831.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2647,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 3144,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2482C>T",
"hgvs_p": "p.Gln828*",
"transcript": "ENST00000561894.1",
"protein_id": "ENSP00000455189.1",
"transcript_support_level": 2,
"aa_start": 828,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2482,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 2483,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "XM_011521756.3",
"protein_id": "XP_011520058.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3292,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "XM_047432789.1",
"protein_id": "XP_047288745.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 4536,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "XM_047432790.1",
"protein_id": "XP_047288746.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3376,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "XM_047432791.1",
"protein_id": "XP_047288747.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3342,
"cdna_end": null,
"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "XM_047432792.1",
"protein_id": "XP_047288748.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3360,
"cdna_end": null,
"cdna_length": 4963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "XM_047432793.1",
"protein_id": "XP_047288749.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3184,
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"cds_length": 3987,
"cdna_start": 5074,
"cdna_end": null,
"cdna_length": 6677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "XM_047432794.1",
"protein_id": "XP_047288750.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3353,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "XM_047432795.1",
"protein_id": "XP_047288751.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3394,
"cdna_end": null,
"cdna_length": 4997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "XM_047432796.1",
"protein_id": "XP_047288752.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Gln1062*",
"transcript": "XM_047432797.1",
"protein_id": "XP_047288753.1",
"transcript_support_level": null,
"aa_start": 1062,
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"transcript": "ENST00000635831.1",
"gene_symbol": "POLG",
"hgnc_id": 9179,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*46-16G>A",
"hgvs_p": null
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "XR_007064749.1",
"gene_symbol": "LOC124903548",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-70G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group I",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Fanconi anemia|Fanconi anemia complementation group I",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}