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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: 4-2930939-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=2930939&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC75A1",
"hgnc_id": 16894,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001120.5",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MFSD10",
"hgnc_id": 16894,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000329687.8",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.7149,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"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": "Pathogenic",
"computational_score_selected": 0.9791184663772583,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001146069.2",
"gene_hgnc_id": 16894,
"gene_symbol": "SLC75A1",
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355443.9",
"protein_coding": true,
"protein_id": "NP_001139541.1",
"strand": false,
"transcript": "NM_001146069.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000355443.9",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001146069.2",
"protein_coding": true,
"protein_id": "ENSP00000347619.4",
"strand": false,
"transcript": "ENST00000355443.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000329687.8",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000332646.4",
"strand": false,
"transcript": "ENST00000329687.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 503,
"aa_ref": "G",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000866678.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Gly471Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536737.1",
"strand": false,
"transcript": "ENST00000866678.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 477,
"aa_ref": "G",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967828.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Gly445Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637887.1",
"strand": false,
"transcript": "ENST00000967828.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001120.5",
"gene_hgnc_id": 16894,
"gene_symbol": "SLC75A1",
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001111.3",
"strand": false,
"transcript": "NM_001120.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000866676.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536735.1",
"strand": false,
"transcript": "ENST00000866676.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000866679.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536738.1",
"strand": false,
"transcript": "ENST00000866679.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1698,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000866682.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536741.1",
"strand": false,
"transcript": "ENST00000866682.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000866683.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536742.1",
"strand": false,
"transcript": "ENST00000866683.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 455,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 1339,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000866684.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536743.1",
"strand": false,
"transcript": "ENST00000866684.1",
"transcript_support_level": null
},
{
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"aa_length": 455,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1740,
"cdna_start": 1368,
"cds_end": null,
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"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
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"feature": "ENST00000866685.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536744.1",
"strand": false,
"transcript": "ENST00000866685.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1314,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000932269.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602328.1",
"strand": false,
"transcript": "ENST00000932269.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 1542,
"cds_end": null,
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"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
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"feature": "ENST00000967825.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Gly423Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000637884.1",
"strand": false,
"transcript": "ENST00000967825.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 452,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 1336,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000932268.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Gly420Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602327.1",
"strand": false,
"transcript": "ENST00000932268.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 447,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1697,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1344,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967827.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Gly415Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637886.1",
"strand": false,
"transcript": "ENST00000967827.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1560,
"cdna_start": 1190,
"cds_end": null,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967830.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637889.1",
"strand": false,
"transcript": "ENST00000967830.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1170,
"cds_end": null,
"cds_length": 1218,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000866681.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Gly373Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536740.1",
"strand": false,
"transcript": "ENST00000866681.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_start": 1169,
"cds_end": null,
"cds_length": 1209,
"cds_start": 1108,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000866680.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Gly370Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536739.1",
"strand": false,
"transcript": "ENST00000866680.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 401,
"aa_ref": "G",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1206,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000866677.1",
"gene_hgnc_id": 16894,
"gene_symbol": "MFSD10",
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536736.1",
"strand": false,
"transcript": "ENST00000866677.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 351,
"aa_ref": "G",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1390,
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