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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: 3-42519262-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=42519262&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "VIPR1",
"hgnc_id": 12694,
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004624.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "VIPR1-AS1",
"hgnc_id": 40610,
"hgvs_c": "n.634G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000593611.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2282,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2515103220939636,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 457,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1374,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004624.4",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000325123.5",
"protein_coding": true,
"protein_id": "NP_004615.2",
"strand": true,
"transcript": "NM_004624.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 457,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1374,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000325123.5",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004624.4",
"protein_coding": true,
"protein_id": "ENSP00000327246.4",
"strand": true,
"transcript": "ENST00000325123.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1404,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883021.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553080.1",
"strand": true,
"transcript": "ENST00000883021.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 456,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 346,
"cds_end": null,
"cds_length": 1371,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883016.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553075.1",
"strand": true,
"transcript": "ENST00000883016.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 456,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 350,
"cds_end": null,
"cds_length": 1371,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883017.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553076.1",
"strand": true,
"transcript": "ENST00000883017.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 455,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 338,
"cds_end": null,
"cds_length": 1368,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883018.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553077.1",
"strand": true,
"transcript": "ENST00000883018.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 455,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2753,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1368,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883020.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553079.1",
"strand": true,
"transcript": "ENST00000883020.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 455,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1368,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883025.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553084.1",
"strand": true,
"transcript": "ENST00000883025.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 454,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1365,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883022.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553081.1",
"strand": true,
"transcript": "ENST00000883022.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 443,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1332,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883023.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553082.1",
"strand": true,
"transcript": "ENST00000883023.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 442,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2709,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1329,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883024.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553083.1",
"strand": true,
"transcript": "ENST00000883024.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 437,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1314,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883027.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553086.1",
"strand": true,
"transcript": "ENST00000883027.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1293,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001251885.2",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.143C>A",
"hgvs_p": "p.Ala48Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238814.1",
"strand": true,
"transcript": "NM_001251885.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1293,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883030.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553089.1",
"strand": true,
"transcript": "ENST00000883030.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 416,
"aa_ref": "A",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3162,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1251,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001251882.2",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Ala34Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238811.1",
"strand": true,
"transcript": "NM_001251882.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 416,
"aa_ref": "A",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1251,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000433647.5",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Ala34Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394950.1",
"strand": true,
"transcript": "ENST00000433647.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 409,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": 211,
"cds_end": null,
"cds_length": 1230,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001251884.2",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.83C>A",
"hgvs_p": "p.Ala28Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238813.1",
"strand": true,
"transcript": "NM_001251884.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 406,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2606,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1221,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883019.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553078.1",
"strand": true,
"transcript": "ENST00000883019.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 383,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1152,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883026.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553085.1",
"strand": true,
"transcript": "ENST00000883026.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 378,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1137,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883028.1",
"gene_hgnc_id": 12694,
"gene_symbol": "VIPR1",
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553087.1",
"strand": true,
"transcript": "ENST00000883028.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 341,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 383,
"cds_end": null,
"cds_length": 1026,
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}
]
}