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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: 3-128625643-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128625643&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128625643,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002950.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Thr429Met",
"transcript": "NM_002950.4",
"protein_id": "NP_002941.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 607,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296255.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002950.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Thr429Met",
"transcript": "ENST00000296255.8",
"protein_id": "ENSP00000296255.3",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 607,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002950.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296255.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Thr429Met",
"transcript": "ENST00000874295.1",
"protein_id": "ENSP00000544354.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 621,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874295.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.1283C>T",
"hgvs_p": "p.Thr428Met",
"transcript": "ENST00000916581.1",
"protein_id": "ENSP00000586640.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 606,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916581.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.1277C>T",
"hgvs_p": "p.Thr426Met",
"transcript": "ENST00000916582.1",
"protein_id": "ENSP00000586641.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 604,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916582.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Thr429Met",
"transcript": "ENST00000916584.1",
"protein_id": "ENSP00000586643.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 602,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916584.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.1253C>T",
"hgvs_p": "p.Thr418Met",
"transcript": "ENST00000916583.1",
"protein_id": "ENSP00000586642.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 596,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916583.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Thr359Met",
"transcript": "ENST00000874292.1",
"protein_id": "ENSP00000544351.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 537,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874292.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Thr323Met",
"transcript": "ENST00000955675.1",
"protein_id": "ENSP00000625734.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 501,
"cds_start": 968,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955675.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Thr305Met",
"transcript": "ENST00000874296.1",
"protein_id": "ENSP00000544355.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 483,
"cds_start": 914,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874296.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Thr257Met",
"transcript": "ENST00000497289.5",
"protein_id": "ENSP00000417529.1",
"transcript_support_level": 2,
"aa_start": 257,
"aa_end": null,
"aa_length": 435,
"cds_start": 770,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497289.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.1275+231C>T",
"hgvs_p": null,
"transcript": "ENST00000874294.1",
"protein_id": "ENSP00000544353.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": null,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874294.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"hgvs_c": "c.844-3234C>T",
"hgvs_p": null,
"transcript": "ENST00000874293.1",
"protein_id": "ENSP00000544352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": null,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874293.1"
}
],
"gene_symbol": "RPN1",
"gene_hgnc_id": 10381,
"dbsnp": "rs770055133",
"frequency_reference_population": 0.000025402725,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000253105,
"gnomad_genomes_af": 0.0000262892,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3417506217956543,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.181,
"revel_prediction": "Benign",
"alphamissense_score": 0.1788,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.907,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_002950.4",
"gene_symbol": "RPN1",
"hgnc_id": 10381,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Thr429Met"
}
],
"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
}