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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: 15-89312958-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89312958&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89312958,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000310775.12",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "NM_001113378.2",
"protein_id": "NP_001106849.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3780,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "ENST00000310775.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "ENST00000310775.12",
"protein_id": "ENSP00000310842.8",
"transcript_support_level": 1,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3780,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "NM_001113378.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3838G>T",
"hgvs_p": "p.Val1280Phe",
"transcript": "ENST00000674831.1",
"protein_id": "ENSP00000502474.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3838,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 3946,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "NM_001376911.1",
"protein_id": "NP_001363840.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3791,
"cdna_end": null,
"cdna_length": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "ENST00000696719.1",
"protein_id": "ENSP00000512832.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3882,
"cdna_end": null,
"cdna_length": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3664G>T",
"hgvs_p": "p.Val1222Phe",
"transcript": "ENST00000676003.1",
"protein_id": "ENSP00000502254.1",
"transcript_support_level": null,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3664,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3847,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3526G>T",
"hgvs_p": "p.Val1176Phe",
"transcript": "NM_018193.3",
"protein_id": "NP_060663.2",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3526,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3600,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3526G>T",
"hgvs_p": "p.Val1176Phe",
"transcript": "ENST00000300027.12",
"protein_id": "ENSP00000300027.8",
"transcript_support_level": 5,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3526,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3630,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3427G>T",
"hgvs_p": "p.Val1143Phe",
"transcript": "NM_001376910.1",
"protein_id": "NP_001363839.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3427,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3786,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3427G>T",
"hgvs_p": "p.Val1143Phe",
"transcript": "ENST00000696717.1",
"protein_id": "ENSP00000512830.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3427,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3785,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3169G>T",
"hgvs_p": "p.Val1057Phe",
"transcript": "ENST00000696718.1",
"protein_id": "ENSP00000512831.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3169,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 3666,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3001G>T",
"hgvs_p": "p.Val1001Phe",
"transcript": "ENST00000561894.1",
"protein_id": "ENSP00000455189.1",
"transcript_support_level": 2,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 3002,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "XM_011521756.3",
"protein_id": "XP_011520058.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3814,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "XM_047432789.1",
"protein_id": "XP_047288745.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
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"cds_length": 3987,
"cdna_start": 5058,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "XM_047432790.1",
"protein_id": "XP_047288746.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3898,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "XM_047432791.1",
"protein_id": "XP_047288747.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
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"cdna_start": 3864,
"cdna_end": null,
"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "XM_047432792.1",
"protein_id": "XP_047288748.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3882,
"cdna_end": null,
"cdna_length": 4963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "XM_047432793.1",
"protein_id": "XP_047288749.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 5596,
"cdna_end": null,
"cdna_length": 6677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "XM_047432794.1",
"protein_id": "XP_047288750.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
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"cdna_start": 3875,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "XM_047432795.1",
"protein_id": "XP_047288751.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3916,
"cdna_end": null,
"cdna_length": 4997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "XM_047432796.1",
"protein_id": "XP_047288752.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3893,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3706G>T",
"hgvs_p": "p.Val1236Phe",
"transcript": "XM_047432797.1",
"protein_id": "XP_047288753.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3706,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3939,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
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"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000310775.12",
"gene_symbol": "FANCI",
"hgnc_id": 25568,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3706G>T",
"hgvs_p": "p.Val1236Phe"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000635831.1",
"gene_symbol": "POLG",
"hgnc_id": 9179,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*45+3748C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}