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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: 4-122186105-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=122186105&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BLTP1",
"hgnc_id": 26953,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001384125.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 64,
"alphamissense_prediction": null,
"alphamissense_score": 0.1041,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.27820345759391785,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5093,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16162,
"cdna_start": 803,
"cds_end": null,
"cds_length": 15282,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 88,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001384125.1",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000679879.1",
"protein_coding": true,
"protein_id": "NP_001371054.1",
"strand": true,
"transcript": "NM_001384125.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5093,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16162,
"cdna_start": 803,
"cds_end": null,
"cds_length": 15282,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 88,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679879.1",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001384125.1",
"protein_coding": true,
"protein_id": "ENSP00000505357.1",
"strand": true,
"transcript": "ENST00000679879.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 4890,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15456,
"cdna_start": 751,
"cds_end": null,
"cds_length": 14673,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000388738.8",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373390.4",
"strand": true,
"transcript": "ENST00000388738.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5005,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15568,
"cdna_start": 473,
"cds_end": null,
"cds_length": 15018,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_015312.4",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056127.2",
"strand": true,
"transcript": "NM_015312.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5005,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15896,
"cdna_start": 801,
"cds_end": null,
"cds_length": 15018,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000264501.8",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264501.4",
"strand": true,
"transcript": "ENST00000264501.8",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5093,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16271,
"cdna_start": 912,
"cds_end": null,
"cds_length": 15282,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011532320.4",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530622.1",
"strand": true,
"transcript": "XM_011532320.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5093,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16187,
"cdna_start": 828,
"cds_end": null,
"cds_length": 15282,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047416251.1",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272207.1",
"strand": true,
"transcript": "XM_047416251.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5093,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16322,
"cdna_start": 963,
"cds_end": null,
"cds_length": 15282,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047416252.1",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272208.1",
"strand": true,
"transcript": "XM_047416252.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5093,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16235,
"cdna_start": 876,
"cds_end": null,
"cds_length": 15282,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047416253.1",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272209.1",
"strand": true,
"transcript": "XM_047416253.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5093,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16854,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 15282,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047416254.1",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272210.1",
"strand": true,
"transcript": "XM_047416254.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5092,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16159,
"cdna_start": 803,
"cds_end": null,
"cds_length": 15279,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 88,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011532322.2",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530624.1",
"strand": true,
"transcript": "XM_011532322.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5092,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16428,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 15279,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047416255.1",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272211.1",
"strand": true,
"transcript": "XM_047416255.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 5092,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16319,
"cdna_start": 963,
"cds_end": null,
"cds_length": 15279,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047416256.1",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272212.1",
"strand": true,
"transcript": "XM_047416256.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5092,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16184,
"cdna_start": 828,
"cds_end": null,
"cds_length": 15279,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047416257.1",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272213.1",
"strand": true,
"transcript": "XM_047416257.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5092,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16232,
"cdna_start": 876,
"cds_end": null,
"cds_length": 15279,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047416258.1",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272214.1",
"strand": true,
"transcript": "XM_047416258.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5076,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16111,
"cdna_start": 803,
"cds_end": null,
"cds_length": 15231,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 87,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011532323.2",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530625.1",
"strand": true,
"transcript": "XM_011532323.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5072,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16099,
"cdna_start": 803,
"cds_end": null,
"cds_length": 15219,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 87,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011532324.2",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530626.1",
"strand": true,
"transcript": "XM_011532324.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 5058,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16057,
"cdna_start": 803,
"cds_end": null,
"cds_length": 15177,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 88,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011532325.2",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530627.1",
"strand": true,
"transcript": "XM_011532325.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5050,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16033,
"cdna_start": 803,
"cds_end": null,
"cds_length": 15153,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 87,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011532326.2",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530628.1",
"strand": true,
"transcript": "XM_011532326.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5050,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16106,
"cdna_start": 876,
"cds_end": null,
"cds_length": 15153,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 88,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047416259.1",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272215.1",
"strand": true,
"transcript": "XM_047416259.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 5050,
"aa_ref": "D",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16142,
"cdna_start": 912,
"cds_end": null,
"cds_length": 15153,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 88,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047416260.1",
"gene_hgnc_id": 26953,
"gene_symbol": "BLTP1",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asp143Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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