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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: 2-210576411-T-TTGGGAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=210576411&ref=T&alt=TTGGGAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM4",
"PP5_Very_Strong"
],
"effects": [
"disruptive_inframe_insertion"
],
"gene_symbol": "CPS1",
"hgnc_id": 2323,
"hgvs_c": "c.339_344dupGAATGG",
"hgvs_p": "p.Gly115_Gly116insAsnGly",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001369256.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM4,PP5_Very_Strong",
"acmg_score": 12,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTGGGAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " neonatal, susceptibility to, type I,Congenital hyperammonemia,Pulmonary hypertension",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:3",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5760,
"cdna_start": 447,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 38,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001875.5",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000233072.10",
"protein_coding": true,
"protein_id": "NP_001866.2",
"strand": true,
"transcript": "NM_001875.5",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5760,
"cdna_start": 447,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 38,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000233072.10",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001875.5",
"protein_coding": true,
"protein_id": "ENSP00000233072.5",
"strand": true,
"transcript": "ENST00000233072.10",
"transcript_support_level": 1
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1506,
"aa_ref": "G",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5723,
"cdna_start": 412,
"cds_end": null,
"cds_length": 4521,
"cds_start": 330,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 39,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000430249.7",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.324_329dupGAATGG",
"hgvs_p": "p.Gly110_Gly111insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402608.2",
"strand": true,
"transcript": "ENST00000430249.7",
"transcript_support_level": 1
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5828,
"cdna_start": 447,
"cds_end": null,
"cds_length": 4572,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 38,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000881564.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551623.1",
"strand": true,
"transcript": "ENST00000881564.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1511,
"aa_ref": "G",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5707,
"cdna_start": 394,
"cds_end": null,
"cds_length": 4536,
"cds_start": 345,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 39,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001369256.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.339_344dupGAATGG",
"hgvs_p": "p.Gly115_Gly116insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356185.1",
"strand": true,
"transcript": "NM_001369256.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5722,
"cdna_start": 409,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 39,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001122633.3",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116105.2",
"strand": true,
"transcript": "NM_001122633.3",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5842,
"cdna_start": 529,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 40,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001369257.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356186.1",
"strand": true,
"transcript": "NM_001369257.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4880,
"cdna_start": 532,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 40,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000673510.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500537.1",
"strand": true,
"transcript": "ENST00000673510.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5775,
"cdna_start": 646,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 40,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000673630.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501073.1",
"strand": true,
"transcript": "ENST00000673630.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5698,
"cdna_start": 385,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 39,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000673711.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501022.1",
"strand": true,
"transcript": "ENST00000673711.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6064,
"cdna_start": 760,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 39,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881558.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551617.1",
"strand": true,
"transcript": "ENST00000881558.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5680,
"cdna_start": 369,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 39,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881559.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551618.1",
"strand": true,
"transcript": "ENST00000881559.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5818,
"cdna_start": 507,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 39,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881560.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551619.1",
"strand": true,
"transcript": "ENST00000881560.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5968,
"cdna_start": 657,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 39,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881561.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551620.1",
"strand": true,
"transcript": "ENST00000881561.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6151,
"cdna_start": 841,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 41,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881562.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551621.1",
"strand": true,
"transcript": "ENST00000881562.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5768,
"cdna_start": 457,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 39,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881563.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551622.1",
"strand": true,
"transcript": "ENST00000881563.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5777,
"cdna_start": 467,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 40,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000921372.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591431.1",
"strand": true,
"transcript": "ENST00000921372.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5430,
"cdna_start": 773,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 41,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000921373.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591432.1",
"strand": true,
"transcript": "ENST00000921373.1",
"transcript_support_level": null
},
{
"aa_alt": "GNG",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5952,
"cdna_start": 643,
"cds_end": null,
"cds_length": 4503,
"cds_start": 312,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 41,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000965726.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "c.306_311dupGAATGG",
"hgvs_p": "p.Gly104_Gly105insAsnGly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635785.1",
"strand": true,
"transcript": "ENST00000965726.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6534,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_161225.1",
"gene_hgnc_id": 2323,
"gene_symbol": "CPS1",
"hgvs_c": "n.1218_1223dupGAATGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_161225.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
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}
]
}