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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: 9-34343283-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34343283&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"PP2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NUDT2",
"hgnc_id": 8049,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": -1,
"transcript": "NM_001161.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,PP2,BP4_Strong",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2029,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010906636714935303,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 998,
"cdna_start": 582,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001161.5",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379158.7",
"protein_coding": true,
"protein_id": "NP_001152.1",
"strand": true,
"transcript": "NM_001161.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 998,
"cdna_start": 582,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000379158.7",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001161.5",
"protein_coding": true,
"protein_id": "ENSP00000368455.1",
"strand": true,
"transcript": "ENST00000379158.7",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 962,
"cdna_start": 532,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000346365.9",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344187.4",
"strand": true,
"transcript": "ENST00000346365.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 750,
"cdna_start": 334,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001244390.2",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231319.1",
"strand": true,
"transcript": "NM_001244390.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 927,
"cdna_start": 511,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_147172.3",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_671701.1",
"strand": true,
"transcript": "NM_147172.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 885,
"cdna_start": 469,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_147173.3",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_671702.1",
"strand": true,
"transcript": "NM_147173.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1002,
"cdna_start": 574,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000379155.9",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368452.5",
"strand": true,
"transcript": "ENST00000379155.9",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 825,
"cdna_start": 397,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000618590.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482384.1",
"strand": true,
"transcript": "ENST00000618590.1",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": 473,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000892438.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562497.1",
"strand": true,
"transcript": "ENST00000892438.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1009,
"cdna_start": 579,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892439.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562498.1",
"strand": true,
"transcript": "ENST00000892439.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1836,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892440.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562499.1",
"strand": true,
"transcript": "ENST00000892440.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1273,
"cdna_start": 846,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892441.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562500.1",
"strand": true,
"transcript": "ENST00000892441.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1052,
"cdna_start": 638,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000892442.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562501.1",
"strand": true,
"transcript": "ENST00000892442.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 971,
"cdna_start": 555,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892443.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562502.1",
"strand": true,
"transcript": "ENST00000892443.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000892444.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562503.1",
"strand": true,
"transcript": "ENST00000892444.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 830,
"cdna_start": 416,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892445.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562504.1",
"strand": true,
"transcript": "ENST00000892445.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1240,
"cdna_start": 813,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892446.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562505.1",
"strand": true,
"transcript": "ENST00000892446.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 855,
"cdna_start": 425,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929626.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599685.1",
"strand": true,
"transcript": "ENST00000929626.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1061,
"cdna_start": 637,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000929627.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599686.1",
"strand": true,
"transcript": "ENST00000929627.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 952,
"cdna_start": 522,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000929628.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599687.1",
"strand": true,
"transcript": "ENST00000929628.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1067,
"cdna_start": 655,
"cds_end": null,
"cds_length": 444,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000969606.1",
"gene_hgnc_id": 8049,
"gene_symbol": "NUDT2",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639665.1",
"strand": true,
"transcript": "ENST00000969606.1",
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}