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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: 16-68329105-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68329105&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRMT7",
"hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001351143.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0672,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14596745371818542,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3738,
"cdna_start": 621,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_019023.5",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3738,
"cdna_start": 621,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000441236.3",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3542,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567542.5",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "n.850+4273G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000567542.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 713,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 621,
"cds_end": null,
"cds_length": 2142,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001351143.3",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
"aa_end": null,
"aa_length": 693,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 621,
"cds_end": null,
"cds_length": 2082,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001351144.3",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
"aa_end": null,
"aa_length": 693,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 612,
"cds_end": null,
"cds_length": 2082,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000692632.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
"aa_end": null,
"aa_length": 693,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 621,
"cds_end": null,
"cds_length": 2082,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897113.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
"aa_end": null,
"aa_length": 693,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 599,
"cds_end": null,
"cds_length": 2082,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000950171.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4289,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001290018.2",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3603,
"cdna_start": 486,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001378018.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000339507.9",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
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"aa_length": 692,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000687558.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
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"aa_length": 692,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 546,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000692760.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 670,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897111.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
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"aa_length": 692,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 732,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897112.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
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"aa_length": 692,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 718,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897114.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 625,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897115.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567174.1",
"strand": true,
"transcript": "ENST00000897115.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 692,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 792,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897118.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567177.1",
"strand": true,
"transcript": "ENST00000897118.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 437,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926970.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 487,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926975.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"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": "Q",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 655,
"cds_end": null,
"cds_length": 2079,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000950164.1",
"gene_hgnc_id": 25557,
"gene_symbol": "PRMT7",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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