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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: 5-176908558-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=176908558&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UIMC1",
"hgnc_id": 30298,
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Glu605Gln",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_016290.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000298307",
"hgnc_id": null,
"hgvs_c": "n.325+4079C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000754646.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 98,
"alphamissense_prediction": null,
"alphamissense_score": 0.0973,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "5",
"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": 0.06599399447441101,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 1951,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001199298.2",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Glu605Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000511320.6",
"protein_coding": true,
"protein_id": "NP_001186227.1",
"strand": false,
"transcript": "NM_001199298.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 1951,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000511320.6",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Glu605Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001199298.2",
"protein_coding": true,
"protein_id": "ENSP00000421926.1",
"strand": false,
"transcript": "ENST00000511320.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 1946,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000377227.8",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Glu605Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366434.4",
"strand": false,
"transcript": "ENST00000377227.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 553,
"aa_ref": "E",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1662,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000506128.5",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1315G>C",
"hgvs_p": "p.Glu439Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427480.1",
"strand": false,
"transcript": "ENST00000506128.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 349,
"aa_ref": "E",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1334,
"cdna_start": 771,
"cds_end": null,
"cds_length": 1050,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000510698.2",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.703G>C",
"hgvs_p": "p.Glu235Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423717.2",
"strand": false,
"transcript": "ENST00000510698.2",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 2191,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001199297.2",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Glu605Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186226.1",
"strand": false,
"transcript": "NM_001199297.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 1980,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_016290.4",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Glu605Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057374.3",
"strand": false,
"transcript": "NM_016290.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2676,
"cdna_start": 2075,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000890107.1",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Glu605Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560166.1",
"strand": false,
"transcript": "ENST00000890107.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 2142,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000924857.1",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Glu605Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594916.1",
"strand": false,
"transcript": "ENST00000924857.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 633,
"aa_ref": "E",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 1800,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890109.1",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1555G>C",
"hgvs_p": "p.Glu519Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560168.1",
"strand": false,
"transcript": "ENST00000890109.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 633,
"aa_ref": "E",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 1725,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000924858.1",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1555G>C",
"hgvs_p": "p.Glu519Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594917.1",
"strand": false,
"transcript": "ENST00000924858.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 553,
"aa_ref": "E",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1662,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001317961.1",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1315G>C",
"hgvs_p": "p.Glu439Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304890.1",
"strand": false,
"transcript": "NM_001317961.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 479,
"aa_ref": "E",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1093,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970269.1",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Glu365Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640328.1",
"strand": false,
"transcript": "ENST00000970269.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 438,
"aa_ref": "E",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1317,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890105.1",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.970G>C",
"hgvs_p": "p.Glu324Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560164.1",
"strand": false,
"transcript": "ENST00000890105.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 438,
"aa_ref": "E",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4511,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 1317,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890106.1",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.970G>C",
"hgvs_p": "p.Glu324Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560165.1",
"strand": false,
"transcript": "ENST00000890106.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 438,
"aa_ref": "E",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1820,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1317,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890108.1",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.970G>C",
"hgvs_p": "p.Glu324Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560167.1",
"strand": false,
"transcript": "ENST00000890108.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 438,
"aa_ref": "E",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1317,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890110.1",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.970G>C",
"hgvs_p": "p.Glu324Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560169.1",
"strand": false,
"transcript": "ENST00000890110.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 352,
"aa_ref": "E",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1406,
"cdna_start": 827,
"cds_end": null,
"cds_length": 1059,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000970268.1",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Glu238Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640327.1",
"strand": false,
"transcript": "ENST00000970268.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 2077,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005265930.3",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Glu605Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265987.1",
"strand": false,
"transcript": "XM_005265930.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2584,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006714871.3",
"gene_hgnc_id": 30298,
"gene_symbol": "UIMC1",
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Glu605Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006714934.1",
"strand": false,
"transcript": "XM_006714871.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 620,
"aa_ref": "E",
"aa_start": 506,
"biotype": "protein_coding",
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