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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: 3-52245993-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52245993&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPM1M",
"hgnc_id": 26506,
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_144641.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TWF2",
"hgnc_id": 9621,
"hgvs_c": "c.-270+686G>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000679296.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000306261",
"hgnc_id": null,
"hgvs_c": "n.469-4583G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000816525.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1019,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3618887662887573,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 459,
"aa_ref": "P",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 235,
"cds_end": null,
"cds_length": 1380,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_144641.4",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000323588.9",
"protein_coding": true,
"protein_id": "NP_653242.3",
"strand": true,
"transcript": "NM_144641.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 459,
"aa_ref": "P",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 235,
"cds_end": null,
"cds_length": 1380,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000323588.9",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144641.4",
"protein_coding": true,
"protein_id": "ENSP00000319894.5",
"strand": true,
"transcript": "ENST00000323588.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 451,
"aa_ref": "P",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 253,
"cds_end": null,
"cds_length": 1356,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000855772.1",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525831.1",
"strand": true,
"transcript": "ENST00000855772.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 427,
"aa_ref": "P",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2166,
"cdna_start": 249,
"cds_end": null,
"cds_length": 1284,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000970938.1",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640997.1",
"strand": true,
"transcript": "ENST00000970938.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 423,
"aa_ref": "P",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 223,
"cds_end": null,
"cds_length": 1272,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000970940.1",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640999.1",
"strand": true,
"transcript": "ENST00000970940.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 235,
"cds_end": null,
"cds_length": 1197,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933491.1",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603550.1",
"strand": true,
"transcript": "ENST00000933491.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 313,
"aa_ref": "P",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1794,
"cdna_start": 239,
"cds_end": null,
"cds_length": 942,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000970939.1",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640998.1",
"strand": true,
"transcript": "ENST00000970939.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 255,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 770,
"cdna_start": 108,
"cds_end": null,
"cds_length": 768,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000457454.5",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.106C>A",
"hgvs_p": "p.Pro36Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413556.1",
"strand": true,
"transcript": "ENST00000457454.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 448,
"aa_ref": "P",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 235,
"cds_end": null,
"cds_length": 1347,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005264879.3",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264936.1",
"strand": true,
"transcript": "XM_005264879.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 374,
"aa_ref": "P",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1976,
"cdna_start": 235,
"cds_end": null,
"cds_length": 1125,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005264880.4",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264937.1",
"strand": true,
"transcript": "XM_005264880.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 363,
"aa_ref": "P",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2001,
"cdna_start": 235,
"cds_end": null,
"cds_length": 1092,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047447468.1",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303424.1",
"strand": true,
"transcript": "XM_047447468.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 251,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": null,
"cds_end": null,
"cds_length": 756,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679296.1",
"gene_hgnc_id": 9621,
"gene_symbol": "TWF2",
"hgvs_c": "c.-270+686G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504576.1",
"strand": false,
"transcript": "ENST00000679296.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000467471.5",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "n.96C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000467471.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1058,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XR_001740024.2",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "n.235C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_001740024.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 633,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000816525.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000306261",
"hgvs_c": "n.469-4583G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000816525.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 390,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000816526.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000306261",
"hgvs_c": "n.229-4583G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000816526.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 247,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": null,
"cds_end": null,
"cds_length": 744,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409502.7",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.-479C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387046.3",
"strand": true,
"transcript": "ENST00000409502.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 270,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": null,
"cds_end": null,
"cds_length": 813,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000296487.8",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.-581C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296487.4",
"strand": true,
"transcript": "ENST00000296487.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 247,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": null,
"cds_end": null,
"cds_length": 744,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001122870.3",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.-479C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116342.1",
"strand": true,
"transcript": "NM_001122870.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 298,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": null,
"cds_end": null,
"cds_length": 897,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005264881.2",
"gene_hgnc_id": 26506,
"gene_symbol": "PPM1M",
"hgvs_c": "c.-581C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264938.1",
"strand": true,
"transcript": "XM_005264881.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1041261270",
"effect": "missense_variant",
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"transcript": "NM_144641.4"
}
]
}