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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: 17-76733069-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76733069&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "METTL23",
"hgnc_id": 26988,
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001080510.5",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "ENSG00000267168",
"hgnc_id": null,
"hgvs_c": "c.94delG",
"hgvs_p": "p.Glu32fs",
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "ENST00000587459.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1128,
"cdna_start": 539,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001080510.5",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341249.11",
"protein_coding": true,
"protein_id": "NP_001073979.3",
"strand": true,
"transcript": "NM_001080510.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1128,
"cdna_start": 539,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000341249.11",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001080510.5",
"protein_coding": true,
"protein_id": "ENSP00000341543.5",
"strand": true,
"transcript": "ENST00000341249.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 100,
"aa_ref": "E",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 479,
"cdna_start": 94,
"cds_end": null,
"cds_length": 303,
"cds_start": 94,
"consequences": [
"frameshift_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000587459.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267168",
"hgvs_c": "c.94delG",
"hgvs_p": "p.Glu32fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466829.1",
"strand": true,
"transcript": "ENST00000587459.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 123,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1006,
"cdna_start": null,
"cds_end": null,
"cds_length": 372,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000590964.5",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.-24delG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465890.1",
"strand": true,
"transcript": "ENST00000590964.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 71,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 465,
"cdna_start": null,
"cds_end": null,
"cds_length": 216,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586200.1",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.-35-222delG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465959.1",
"strand": true,
"transcript": "ENST00000586200.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1163,
"cdna_start": 574,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001206983.3",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193912.1",
"strand": true,
"transcript": "NM_001206983.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 829,
"cdna_start": 240,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001206984.3",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193913.1",
"strand": true,
"transcript": "NM_001206984.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1073,
"cdna_start": 484,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001302703.2",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289632.1",
"strand": true,
"transcript": "NM_001302703.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1480,
"cdna_start": 891,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001378348.1",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365277.1",
"strand": true,
"transcript": "NM_001378348.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1035,
"cdna_start": 446,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001378349.1",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365278.1",
"strand": true,
"transcript": "NM_001378349.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1171,
"cdna_start": 583,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000615984.4",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482599.1",
"strand": true,
"transcript": "ENST00000615984.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1037,
"cdna_start": 447,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905510.1",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575569.1",
"strand": true,
"transcript": "ENST00000905510.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1095,
"cdna_start": 506,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905511.1",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575570.1",
"strand": true,
"transcript": "ENST00000905511.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 961,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905512.1",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575571.1",
"strand": true,
"transcript": "ENST00000905512.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1291,
"cdna_start": 703,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905513.1",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575572.1",
"strand": true,
"transcript": "ENST00000905513.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1498,
"cdna_start": 914,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905514.1",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575573.1",
"strand": true,
"transcript": "ENST00000905514.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1264,
"cdna_start": 677,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000905515.1",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575574.1",
"strand": true,
"transcript": "ENST00000905515.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 803,
"cdna_start": 214,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000935921.1",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605980.1",
"strand": true,
"transcript": "ENST00000935921.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 712,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000969534.1",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639593.1",
"strand": true,
"transcript": "ENST00000969534.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1242,
"cdna_start": 652,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000969535.1",
"gene_hgnc_id": 26988,
"gene_symbol": "METTL23",
"hgvs_c": "c.178delG",
"hgvs_p": "p.Glu60fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639594.1",
"strand": true,
"transcript": "ENST00000969535.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1399,
"cdna_start": 814,
"cds_end": null,
"cds_length": 573,
"cds_start": 178,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000969536.1",
"gene_hgnc_id": 26988,
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