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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: 7-40237664-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=40237664&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SUGCT",
"hgnc_id": 16001,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001193311.2",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000300259",
"hgnc_id": null,
"hgvs_c": "n.268+2252G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000770410.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10199999809265137,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1317,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001193313.2",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335693.9",
"protein_coding": true,
"protein_id": "NP_001180242.2",
"strand": true,
"transcript": "NM_001193313.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1317,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000335693.9",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001193313.2",
"protein_coding": true,
"protein_id": "ENSP00000338475.5",
"strand": true,
"transcript": "ENST00000335693.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1563,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1395,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000628514.3",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486291.2",
"strand": true,
"transcript": "ENST00000628514.3",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1593,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1260,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000416370.2",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393032.2",
"strand": true,
"transcript": "ENST00000416370.2",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1341,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1173,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000401647.7",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385222.3",
"strand": true,
"transcript": "ENST00000401647.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 490,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 581,
"cds_end": null,
"cds_length": 1473,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874501.1",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544560.1",
"strand": true,
"transcript": "ENST00000874501.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1395,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001193311.2",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180240.2",
"strand": true,
"transcript": "NM_001193311.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 442,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1619,
"cdna_start": 526,
"cds_end": null,
"cds_length": 1329,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874502.1",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544561.1",
"strand": true,
"transcript": "ENST00000874502.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1584,
"cdna_start": 419,
"cds_end": null,
"cds_length": 1284,
"cds_start": 403,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_024728.3",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.403C>A",
"hgvs_p": "p.Arg135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079004.2",
"strand": true,
"transcript": "NM_024728.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3362,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1251,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874500.1",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544559.1",
"strand": true,
"transcript": "ENST00000874500.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1473,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1173,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001193312.2",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180241.2",
"strand": true,
"transcript": "NM_001193312.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 490,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1473,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011515525.4",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513827.2",
"strand": true,
"transcript": "XM_011515525.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1798,
"cdna_start": 555,
"cds_end": null,
"cds_length": 1416,
"cds_start": 457,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011515526.2",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Arg153Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513828.1",
"strand": true,
"transcript": "XM_011515526.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1395,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006715775.4",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715838.2",
"strand": true,
"transcript": "XM_006715775.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1395,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047420840.1",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276796.1",
"strand": true,
"transcript": "XM_047420840.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 456,
"aa_ref": "R",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1371,
"cds_start": 412,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017012621.1",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.412C>A",
"hgvs_p": "p.Arg138Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868110.1",
"strand": true,
"transcript": "XM_017012621.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 442,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1629,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1329,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011515527.4",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513829.2",
"strand": true,
"transcript": "XM_011515527.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 428,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8491,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1287,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017012622.3",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868111.2",
"strand": true,
"transcript": "XM_017012622.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 423,
"aa_ref": "R",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1657,
"cdna_start": 558,
"cds_end": null,
"cds_length": 1272,
"cds_start": 457,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047420842.1",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Arg153Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276798.1",
"strand": true,
"transcript": "XM_047420842.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1251,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011515529.4",
"gene_hgnc_id": 16001,
"gene_symbol": "SUGCT",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513831.2",
"strand": true,
"transcript": "XM_011515529.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1251,
"cds_start": 514,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
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