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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-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50444206&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50444206,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001365836.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2839G>C",
"hgvs_p": "p.Asp947His",
"transcript": "NM_001242898.2",
"protein_id": "NP_001229827.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 959,
"cds_start": 2839,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000612753.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242898.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2839G>C",
"hgvs_p": "p.Asp947His",
"transcript": "ENST00000612753.5",
"protein_id": "ENSP00000478417.1",
"transcript_support_level": 2,
"aa_start": 947,
"aa_end": null,
"aa_length": 959,
"cds_start": 2839,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001242898.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612753.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2860G>C",
"hgvs_p": "p.Asp954His",
"transcript": "ENST00000216061.9",
"protein_id": "ENSP00000216061.5",
"transcript_support_level": 1,
"aa_start": 954,
"aa_end": null,
"aa_length": 966,
"cds_start": 2860,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216061.9"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Asp921His",
"transcript": "ENST00000395741.7",
"protein_id": "ENSP00000379090.3",
"transcript_support_level": 1,
"aa_start": 921,
"aa_end": null,
"aa_length": 933,
"cds_start": 2761,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395741.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2758G>C",
"hgvs_p": "p.Asp920His",
"transcript": "ENST00000395744.7",
"protein_id": "ENSP00000379093.3",
"transcript_support_level": 1,
"aa_start": 920,
"aa_end": null,
"aa_length": 932,
"cds_start": 2758,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395744.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2869G>C",
"hgvs_p": "p.Asp957His",
"transcript": "ENST00000906623.1",
"protein_id": "ENSP00000576682.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 969,
"cds_start": 2869,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906623.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2863G>C",
"hgvs_p": "p.Asp955His",
"transcript": "ENST00000906628.1",
"protein_id": "ENSP00000576687.1",
"transcript_support_level": null,
"aa_start": 955,
"aa_end": null,
"aa_length": 967,
"cds_start": 2863,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906628.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2863G>C",
"hgvs_p": "p.Asp955His",
"transcript": "ENST00000938142.1",
"protein_id": "ENSP00000608201.1",
"transcript_support_level": null,
"aa_start": 955,
"aa_end": null,
"aa_length": 967,
"cds_start": 2863,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938142.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2863G>C",
"hgvs_p": "p.Asp955His",
"transcript": "ENST00000966967.1",
"protein_id": "ENSP00000637026.1",
"transcript_support_level": null,
"aa_start": 955,
"aa_end": null,
"aa_length": 967,
"cds_start": 2863,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966967.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2860G>C",
"hgvs_p": "p.Asp954His",
"transcript": "NM_001365836.1",
"protein_id": "NP_001352765.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 966,
"cds_start": 2860,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365836.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2860G>C",
"hgvs_p": "p.Asp954His",
"transcript": "ENST00000906618.1",
"protein_id": "ENSP00000576677.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 966,
"cds_start": 2860,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906618.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2860G>C",
"hgvs_p": "p.Asp954His",
"transcript": "ENST00000906645.1",
"protein_id": "ENSP00000576704.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 966,
"cds_start": 2860,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906645.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2860G>C",
"hgvs_p": "p.Asp954His",
"transcript": "ENST00000906649.1",
"protein_id": "ENSP00000576708.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 966,
"cds_start": 2860,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906649.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2860G>C",
"hgvs_p": "p.Asp954His",
"transcript": "ENST00000966975.1",
"protein_id": "ENSP00000637034.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 966,
"cds_start": 2860,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966975.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2860G>C",
"hgvs_p": "p.Asp954His",
"transcript": "ENST00000966986.1",
"protein_id": "ENSP00000637045.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 966,
"cds_start": 2860,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966986.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2845G>C",
"hgvs_p": "p.Asp949His",
"transcript": "ENST00000906621.1",
"protein_id": "ENSP00000576680.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 961,
"cds_start": 2845,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906621.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2842G>C",
"hgvs_p": "p.Asp948His",
"transcript": "NM_001351641.2",
"protein_id": "NP_001338570.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 960,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351641.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2842G>C",
"hgvs_p": "p.Asp948His",
"transcript": "NM_001351642.2",
"protein_id": "NP_001338571.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 960,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351642.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2842G>C",
"hgvs_p": "p.Asp948His",
"transcript": "ENST00000906614.1",
"protein_id": "ENSP00000576673.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 960,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906614.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2842G>C",
"hgvs_p": "p.Asp948His",
"transcript": "ENST00000906617.1",
"protein_id": "ENSP00000576676.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 960,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906617.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2842G>C",
"hgvs_p": "p.Asp948His",
"transcript": "ENST00000906624.1",
"protein_id": "ENSP00000576683.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 960,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906624.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.2842G>C",
"hgvs_p": "p.Asp948His",
"transcript": "ENST00000906627.1",
"protein_id": "ENSP00000576686.1",
"transcript_support_level": null,
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],
"gene_symbol": "PPP6R2",
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"dbsnp": "rs140182883",
"frequency_reference_population": 0.0000065645227,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656452,
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"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18315792083740234,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.131,
"revel_prediction": "Benign",
"alphamissense_score": 0.1168,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.798,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365836.1",
"gene_symbol": "PPP6R2",
"hgnc_id": 19253,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2860G>C",
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},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000685180.1",
"gene_symbol": "SBF1",
"hgnc_id": 10542,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.6310C>G",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}