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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: 15-89312912-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89312912&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89312912,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000310775.12",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "NM_001113378.2",
"protein_id": "NP_001106849.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3734,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "ENST00000310775.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "ENST00000310775.12",
"protein_id": "ENSP00000310842.8",
"transcript_support_level": 1,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3734,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "NM_001113378.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3792T>C",
"hgvs_p": "p.Ser1264Ser",
"transcript": "ENST00000674831.1",
"protein_id": "ENSP00000502474.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3792,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 3900,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "NM_001376911.1",
"protein_id": "NP_001363840.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3745,
"cdna_end": null,
"cdna_length": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "ENST00000696719.1",
"protein_id": "ENSP00000512832.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3836,
"cdna_end": null,
"cdna_length": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3618T>C",
"hgvs_p": "p.Ser1206Ser",
"transcript": "ENST00000676003.1",
"protein_id": "ENSP00000502254.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3618,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3480T>C",
"hgvs_p": "p.Ser1160Ser",
"transcript": "NM_018193.3",
"protein_id": "NP_060663.2",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3480,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3554,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3480T>C",
"hgvs_p": "p.Ser1160Ser",
"transcript": "ENST00000300027.12",
"protein_id": "ENSP00000300027.8",
"transcript_support_level": 5,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3480,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3584,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3381T>C",
"hgvs_p": "p.Ser1127Ser",
"transcript": "NM_001376910.1",
"protein_id": "NP_001363839.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3381,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3740,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3381T>C",
"hgvs_p": "p.Ser1127Ser",
"transcript": "ENST00000696717.1",
"protein_id": "ENSP00000512830.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3381,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3739,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3123T>C",
"hgvs_p": "p.Ser1041Ser",
"transcript": "ENST00000696718.1",
"protein_id": "ENSP00000512831.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3123,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 3620,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2955T>C",
"hgvs_p": "p.Ser985Ser",
"transcript": "ENST00000561894.1",
"protein_id": "ENSP00000455189.1",
"transcript_support_level": 2,
"aa_start": 985,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2955,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 2956,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "XM_011521756.3",
"protein_id": "XP_011520058.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3768,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "XM_047432789.1",
"protein_id": "XP_047288745.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 5012,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "XM_047432790.1",
"protein_id": "XP_047288746.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "XM_047432791.1",
"protein_id": "XP_047288747.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3818,
"cdna_end": null,
"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "XM_047432792.1",
"protein_id": "XP_047288748.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3836,
"cdna_end": null,
"cdna_length": 4963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "XM_047432793.1",
"protein_id": "XP_047288749.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 5550,
"cdna_end": null,
"cdna_length": 6677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "XM_047432794.1",
"protein_id": "XP_047288750.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3829,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "XM_047432795.1",
"protein_id": "XP_047288751.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3870,
"cdna_end": null,
"cdna_length": 4997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "XM_047432796.1",
"protein_id": "XP_047288752.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3847,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser",
"transcript": "XM_047432797.1",
"protein_id": "XP_047288753.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3893,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000310775.12",
"gene_symbol": "FANCI",
"hgnc_id": 25568,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Ser1220Ser"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000635831.1",
"gene_symbol": "POLG",
"hgnc_id": 9179,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*45+3794A>G",
"hgvs_p": null
}
],
"clinvar_disease": "FANCI-related disorder,Fanconi anemia,Fanconi anemia complementation group I,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"phenotype_combined": "Fanconi anemia|Fanconi anemia complementation group I|not specified|FANCI-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}