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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: 1-40074178-GCG-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=40074178&ref=GCG&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPT1",
"hgnc_id": 9325,
"hgvs_c": "c.802_804delCGCinsAGT",
"hgvs_p": "p.Arg268Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_000310.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 306,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 818,
"cds_end": null,
"cds_length": 921,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000310.4",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.802_804delCGCinsAGT",
"hgvs_p": "p.Arg268Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642050.2",
"protein_coding": true,
"protein_id": "NP_000301.1",
"strand": false,
"transcript": "NM_000310.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 306,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 818,
"cds_end": null,
"cds_length": 921,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642050.2",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.802_804delCGCinsAGT",
"hgvs_p": "p.Arg268Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000310.4",
"protein_coding": true,
"protein_id": "ENSP00000493153.1",
"strand": false,
"transcript": "ENST00000642050.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 305,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 815,
"cds_end": null,
"cds_length": 918,
"cds_start": 799,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000433473.8",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.799_801delCGCinsAGT",
"hgvs_p": "p.Arg267Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394863.4",
"strand": false,
"transcript": "ENST00000433473.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000530704.6",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "n.*425_*427delCGCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431655.1",
"strand": false,
"transcript": "ENST00000530704.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000530704.6",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "n.*425_*427delCGCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431655.1",
"strand": false,
"transcript": "ENST00000530704.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 335,
"aa_ref": "R",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 900,
"cds_end": null,
"cds_length": 1008,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000641471.1",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.889_891delCGCinsAGT",
"hgvs_p": "p.Arg297Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493146.1",
"strand": false,
"transcript": "ENST00000641471.1",
"transcript_support_level": null
},
{
"aa_alt": "QS",
"aa_end": null,
"aa_length": 322,
"aa_ref": "PP",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": 894,
"cds_end": null,
"cds_length": 969,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000641083.1",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.890_892delCGCinsAGT",
"hgvs_p": "p.ProPro297GlnSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493369.1",
"strand": false,
"transcript": "ENST00000641083.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 311,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 848,
"cds_end": null,
"cds_length": 936,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917762.1",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.817_819delCGCinsAGT",
"hgvs_p": "p.Arg273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587821.1",
"strand": false,
"transcript": "ENST00000917762.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 282,
"aa_ref": "R",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": 746,
"cds_end": null,
"cds_length": 849,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363695.2",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.730_732delCGCinsAGT",
"hgvs_p": "p.Arg244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350624.1",
"strand": false,
"transcript": "NM_001363695.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 282,
"aa_ref": "R",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 746,
"cds_end": null,
"cds_length": 849,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439754.6",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.730_732delCGCinsAGT",
"hgvs_p": "p.Arg244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403207.2",
"strand": false,
"transcript": "ENST00000439754.6",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 207,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 638,
"cdna_start": 587,
"cds_end": null,
"cds_length": 624,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527311.7",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.571_573delCGCinsAGT",
"hgvs_p": "p.Arg191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436695.3",
"strand": false,
"transcript": "ENST00000527311.7",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 203,
"aa_ref": "R",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3226,
"cdna_start": 509,
"cds_end": null,
"cds_length": 612,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142604.2",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.493_495delCGCinsAGT",
"hgvs_p": "p.Arg165Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136076.1",
"strand": false,
"transcript": "NM_001142604.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 203,
"aa_ref": "R",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1957,
"cdna_start": 517,
"cds_end": null,
"cds_length": 612,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000449045.7",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.493_495delCGCinsAGT",
"hgvs_p": "p.Arg165Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392293.2",
"strand": false,
"transcript": "ENST00000449045.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 87,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 406,
"cds_end": null,
"cds_length": 264,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000530076.6",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.145_147delCGCinsAGT",
"hgvs_p": "p.Arg49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434007.1",
"strand": false,
"transcript": "ENST00000530076.6",
"transcript_support_level": 2
},
{
"aa_alt": "TV",
"aa_end": null,
"aa_length": 77,
"aa_ref": "TA",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 618,
"cdna_start": 226,
"cds_end": null,
"cds_length": 234,
"cds_start": 222,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000641381.1",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.222_224delCGCinsAGT",
"hgvs_p": "p.Ala75Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493359.1",
"strand": false,
"transcript": "ENST00000641381.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 301,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": null,
"cds_end": null,
"cds_length": 906,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000641319.1",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "c.*12_*14delCGCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493128.1",
"strand": false,
"transcript": "ENST00000641319.1",
"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": 563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000372775.2",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "n.199_201delCGCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000372775.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1836,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000529905.5",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "n.802_804delCGCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432053.1",
"strand": false,
"transcript": "ENST00000529905.5",
"transcript_support_level": 5
},
{
"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": 2481,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000641236.1",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "n.1039_1041delCGCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000641236.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000641691.1",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "n.*654_*656delCGCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492910.1",
"strand": false,
"transcript": "ENST00000641691.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 550,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000641924.1",
"gene_hgnc_id": 9325,
"gene_symbol": "PPT1",
"hgvs_c": "n.*231_*233delCGCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
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}