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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: 16-68316074-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68316074&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "PRMT7",
"hgnc_id": 25557,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001351143.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_score": 8,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.6869,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5852144360542297,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3738,
"cdna_start": 394,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_019023.5",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000441236.3",
"protein_coding": true,
"protein_id": "NP_061896.1",
"strand": true,
"transcript": "NM_019023.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3738,
"cdna_start": 394,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000441236.3",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019023.5",
"protein_coding": true,
"protein_id": "ENSP00000409324.2",
"strand": true,
"transcript": "ENST00000441236.3",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 713,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 394,
"cds_end": null,
"cds_length": 2142,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351143.3",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338072.1",
"strand": true,
"transcript": "NM_001351143.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 693,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 394,
"cds_end": null,
"cds_length": 2082,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351144.3",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338073.1",
"strand": true,
"transcript": "NM_001351144.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 693,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 385,
"cds_end": null,
"cds_length": 2082,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000692632.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510669.1",
"strand": true,
"transcript": "ENST00000692632.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 693,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 394,
"cds_end": null,
"cds_length": 2082,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897113.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567172.1",
"strand": true,
"transcript": "ENST00000897113.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 693,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 372,
"cds_end": null,
"cds_length": 2082,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000950171.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620230.1",
"strand": true,
"transcript": "ENST00000950171.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4289,
"cdna_start": 945,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001290018.2",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276947.1",
"strand": true,
"transcript": "NM_001290018.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3603,
"cdna_start": 259,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001378018.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364947.1",
"strand": true,
"transcript": "NM_001378018.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 925,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000339507.9",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343103.5",
"strand": true,
"transcript": "ENST00000339507.9",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": 805,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000687558.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509003.1",
"strand": true,
"transcript": "ENST00000687558.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 319,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000692760.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510748.1",
"strand": true,
"transcript": "ENST00000692760.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 443,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897111.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567170.1",
"strand": true,
"transcript": "ENST00000897111.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 505,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897112.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567171.1",
"strand": true,
"transcript": "ENST00000897112.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 491,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897114.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567173.1",
"strand": true,
"transcript": "ENST00000897114.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 398,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897115.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567174.1",
"strand": true,
"transcript": "ENST00000897115.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 565,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000897118.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567177.1",
"strand": true,
"transcript": "ENST00000897118.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 210,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000926970.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597029.1",
"strand": true,
"transcript": "ENST00000926970.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 260,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000926975.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597034.1",
"strand": true,
"transcript": "ENST00000926975.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 428,
"cds_end": null,
"cds_length": 2079,
"cds_start": 95,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000950164.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620223.1",
"strand": true,
"transcript": "ENST00000950164.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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