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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: 9-34649487-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34649487&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GALT",
"hgnc_id": 4135,
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Arg328Cys",
"inheritance_mode": "AR",
"pathogenic_score": 23,
"score": 23,
"transcript": "NM_000155.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000258728",
"hgnc_id": null,
"hgvs_c": "c.432+1031C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 18,
"score": 18,
"transcript": "ENST00000556278.1",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000294190",
"hgnc_id": null,
"hgvs_c": "n.126+2422G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 18,
"score": 18,
"transcript": "ENST00000721802.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 23,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.8856,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.55,
"chr": "9",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9761300086975098,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1756,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1140,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000155.4",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378842.8",
"protein_coding": true,
"protein_id": "NP_000146.2",
"strand": true,
"transcript": "NM_000155.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1756,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1140,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000378842.8",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000155.4",
"protein_coding": true,
"protein_id": "ENSP00000368119.4",
"strand": true,
"transcript": "ENST00000378842.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 279,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 902,
"cdna_start": null,
"cds_end": null,
"cds_length": 842,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556278.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258728",
"hgvs_c": "c.432+1031C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451792.1",
"strand": true,
"transcript": "ENST00000556278.1",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 1179,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902340.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572399.1",
"strand": true,
"transcript": "ENST00000902340.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 388,
"aa_ref": "R",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1320,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902346.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.1009C>T",
"hgvs_p": "p.Arg337Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572405.1",
"strand": true,
"transcript": "ENST00000902346.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 1140,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902330.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572389.1",
"strand": true,
"transcript": "ENST00000902330.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 1140,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000902331.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572390.1",
"strand": true,
"transcript": "ENST00000902331.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1140,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902333.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572392.1",
"strand": true,
"transcript": "ENST00000902333.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1140,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964991.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635050.1",
"strand": true,
"transcript": "ENST00000964991.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 1140,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964992.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Arg328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635051.1",
"strand": true,
"transcript": "ENST00000964992.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1338,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1134,
"cds_start": 976,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936127.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606186.1",
"strand": true,
"transcript": "ENST00000936127.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1128,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902332.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572391.1",
"strand": true,
"transcript": "ENST00000902332.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1128,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000902336.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572395.1",
"strand": true,
"transcript": "ENST00000902336.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1128,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000902344.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572403.1",
"strand": true,
"transcript": "ENST00000902344.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 360,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1083,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902337.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572396.1",
"strand": true,
"transcript": "ENST00000902337.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 356,
"aa_ref": "R",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1071,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902339.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572398.1",
"strand": true,
"transcript": "ENST00000902339.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1056,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902334.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572393.1",
"strand": true,
"transcript": "ENST00000902334.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1056,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000964993.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635052.1",
"strand": true,
"transcript": "ENST00000964993.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1197,
"cdna_start": 914,
"cds_end": null,
"cds_length": 1044,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902347.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572406.1",
"strand": true,
"transcript": "ENST00000902347.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 338,
"aa_ref": "R",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1578,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 1017,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "not provided|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.567,
"pos": 34649487,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.955,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000155.4"
}
]
}