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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: 22-50444206-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50444206&ref=G&alt=A&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": "PPP6R2",
"hgnc_id": 19253,
"hgvs_c": "c.2860G>A",
"hgvs_p": "p.Asp954Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001365836.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SBF1",
"hgnc_id": 10542,
"hgvs_c": "n.6310C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000685180.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0814,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.22322705388069153,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 959,
"aa_ref": "D",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4094,
"cdna_start": 3210,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2839,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001242898.2",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2839G>A",
"hgvs_p": "p.Asp947Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000612753.5",
"protein_coding": true,
"protein_id": "NP_001229827.1",
"strand": true,
"transcript": "NM_001242898.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 959,
"aa_ref": "D",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4094,
"cdna_start": 3210,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2839,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000612753.5",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2839G>A",
"hgvs_p": "p.Asp947Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001242898.2",
"protein_coding": true,
"protein_id": "ENSP00000478417.1",
"strand": true,
"transcript": "ENST00000612753.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 966,
"aa_ref": "D",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": 3230,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2860,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000216061.9",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2860G>A",
"hgvs_p": "p.Asp954Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000216061.5",
"strand": true,
"transcript": "ENST00000216061.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 933,
"aa_ref": "D",
"aa_start": 921,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 3136,
"cds_end": null,
"cds_length": 2802,
"cds_start": 2761,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000395741.7",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2761G>A",
"hgvs_p": "p.Asp921Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379090.3",
"strand": true,
"transcript": "ENST00000395741.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "D",
"aa_start": 920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 3125,
"cds_end": null,
"cds_length": 2799,
"cds_start": 2758,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000395744.7",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2758G>A",
"hgvs_p": "p.Asp920Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379093.3",
"strand": true,
"transcript": "ENST00000395744.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 969,
"aa_ref": "D",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 3240,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2869,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000906623.1",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2869G>A",
"hgvs_p": "p.Asp957Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576682.1",
"strand": true,
"transcript": "ENST00000906623.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": 3234,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2863,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000906628.1",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2863G>A",
"hgvs_p": "p.Asp955Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576687.1",
"strand": true,
"transcript": "ENST00000906628.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3255,
"cdna_start": 3087,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2863,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000938142.1",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2863G>A",
"hgvs_p": "p.Asp955Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608201.1",
"strand": true,
"transcript": "ENST00000938142.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": 3229,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2863,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000966967.1",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2863G>A",
"hgvs_p": "p.Asp955Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637026.1",
"strand": true,
"transcript": "ENST00000966967.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 966,
"aa_ref": "D",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4390,
"cdna_start": 3506,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2860,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001365836.1",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2860G>A",
"hgvs_p": "p.Asp954Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352765.1",
"strand": true,
"transcript": "NM_001365836.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 966,
"aa_ref": "D",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": 3239,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2860,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000906618.1",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2860G>A",
"hgvs_p": "p.Asp954Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576677.1",
"strand": true,
"transcript": "ENST00000906618.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 966,
"aa_ref": "D",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3162,
"cdna_start": 2998,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2860,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000906645.1",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2860G>A",
"hgvs_p": "p.Asp954Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576704.1",
"strand": true,
"transcript": "ENST00000906645.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 966,
"aa_ref": "D",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": 3086,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2860,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000906649.1",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2860G>A",
"hgvs_p": "p.Asp954Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576708.1",
"strand": true,
"transcript": "ENST00000906649.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 966,
"aa_ref": "D",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": 3296,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2860,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000966975.1",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2860G>A",
"hgvs_p": "p.Asp954Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637034.1",
"strand": true,
"transcript": "ENST00000966975.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 966,
"aa_ref": "D",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 3220,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2860,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000966986.1",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2860G>A",
"hgvs_p": "p.Asp954Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637045.1",
"strand": true,
"transcript": "ENST00000966986.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 961,
"aa_ref": "D",
"aa_start": 949,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 3216,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2845,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000906621.1",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2845G>A",
"hgvs_p": "p.Asp949Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576680.1",
"strand": true,
"transcript": "ENST00000906621.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 960,
"aa_ref": "D",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4097,
"cdna_start": 3213,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2842,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001351641.2",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2842G>A",
"hgvs_p": "p.Asp948Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338570.1",
"strand": true,
"transcript": "NM_001351641.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 960,
"aa_ref": "D",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4097,
"cdna_start": 3213,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2842,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001351642.2",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2842G>A",
"hgvs_p": "p.Asp948Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338571.1",
"strand": true,
"transcript": "NM_001351642.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 960,
"aa_ref": "D",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4120,
"cdna_start": 3236,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2842,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000906614.1",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2842G>A",
"hgvs_p": "p.Asp948Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576673.1",
"strand": true,
"transcript": "ENST00000906614.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 960,
"aa_ref": "D",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4235,
"cdna_start": 3357,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2842,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000906617.1",
"gene_hgnc_id": 19253,
"gene_symbol": "PPP6R2",
"hgvs_c": "c.2842G>A",
"hgvs_p": "p.Asp948Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576676.1",
"strand": true,
"transcript": "ENST00000906617.1",
"transcript_support_level": null
},
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