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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: 5-150376149-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150376149&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150376149,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001371623.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "NM_001371623.1",
"protein_id": "NP_001358552.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1489,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000643257.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371623.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000643257.2",
"protein_id": "ENSP00000493815.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1489,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001371623.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643257.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000504761.6",
"protein_id": "ENSP00000421655.2",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 1488,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504761.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1730C>T",
"hgvs_p": "p.Ala577Val",
"transcript": "ENST00000323668.11",
"protein_id": "ENSP00000325223.6",
"transcript_support_level": 1,
"aa_start": 577,
"aa_end": null,
"aa_length": 1411,
"cds_start": 1730,
"cds_end": null,
"cds_length": 4236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323668.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000394269.7",
"protein_id": "ENSP00000377811.3",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 958,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394269.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000930571.1",
"protein_id": "ENSP00000600630.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1558,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930571.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000930555.1",
"protein_id": "ENSP00000600614.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1525,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930555.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000930560.1",
"protein_id": "ENSP00000600619.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1525,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930560.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000930554.1",
"protein_id": "ENSP00000600613.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1524,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930554.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.2039C>T",
"hgvs_p": "p.Ala680Val",
"transcript": "ENST00000930565.1",
"protein_id": "ENSP00000600624.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 1514,
"cds_start": 2039,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930565.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000930570.1",
"protein_id": "ENSP00000600629.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1509,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930570.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000930586.1",
"protein_id": "ENSP00000600645.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1508,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930586.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "NM_001135243.2",
"protein_id": "NP_001128715.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1488,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135243.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000377797.7",
"protein_id": "ENSP00000367028.4",
"transcript_support_level": 5,
"aa_start": 654,
"aa_end": null,
"aa_length": 1488,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377797.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000513346.5",
"protein_id": "ENSP00000427484.1",
"transcript_support_level": 5,
"aa_start": 654,
"aa_end": null,
"aa_length": 1488,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513346.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000930558.1",
"protein_id": "ENSP00000600617.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1488,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930558.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000930544.1",
"protein_id": "ENSP00000600603.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1487,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930544.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000930556.1",
"protein_id": "ENSP00000600615.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1487,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930556.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000930557.1",
"protein_id": "ENSP00000600616.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1487,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930557.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000930575.1",
"protein_id": "ENSP00000600634.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1487,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930575.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000930576.1",
"protein_id": "ENSP00000600635.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1472,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930576.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000930562.1",
"protein_id": "ENSP00000600621.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1470,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4413,
"cdna_start": null,
"cdna_end": null,
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"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001371623.1",
"gene_symbol": "TCOF1",
"hgnc_id": 11654,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val"
}
],
"clinvar_disease": "Treacher Collins syndrome 1,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|Treacher Collins syndrome 1",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}