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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: 20-62956895-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62956895&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC17A9",
"hgnc_id": 16192,
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_022082.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0752,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05867272615432739,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 436,
"aa_ref": "I",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3518,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1311,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_022082.4",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370351.9",
"protein_coding": true,
"protein_id": "NP_071365.4",
"strand": true,
"transcript": "NM_022082.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 436,
"aa_ref": "I",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3518,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1311,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000370351.9",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022082.4",
"protein_coding": true,
"protein_id": "ENSP00000359376.4",
"strand": true,
"transcript": "ENST00000370351.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 430,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2594,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1293,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000370349.7",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Ile58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359374.3",
"strand": true,
"transcript": "ENST00000370349.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 458,
"aa_ref": "I",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 319,
"cds_end": null,
"cds_length": 1377,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000878413.1",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548472.1",
"strand": true,
"transcript": "ENST00000878413.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 453,
"aa_ref": "I",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 211,
"cds_end": null,
"cds_length": 1362,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000954464.1",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624523.1",
"strand": true,
"transcript": "ENST00000954464.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 447,
"aa_ref": "I",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2555,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1344,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000878414.1",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548473.1",
"strand": true,
"transcript": "ENST00000878414.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 444,
"aa_ref": "I",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1335,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000878415.1",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548474.1",
"strand": true,
"transcript": "ENST00000878415.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 434,
"aa_ref": "I",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1305,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930363.1",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.184A>G",
"hgvs_p": "p.Ile62Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600422.1",
"strand": true,
"transcript": "ENST00000930363.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 430,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3580,
"cdna_start": 374,
"cds_end": null,
"cds_length": 1293,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001302643.2",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Ile58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289572.2",
"strand": true,
"transcript": "NM_001302643.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 429,
"aa_ref": "I",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 255,
"cds_end": null,
"cds_length": 1290,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000878416.1",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548475.1",
"strand": true,
"transcript": "ENST00000878416.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 426,
"aa_ref": "I",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2541,
"cdna_start": 353,
"cds_end": null,
"cds_length": 1281,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000878412.1",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548471.1",
"strand": true,
"transcript": "ENST00000878412.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 151,
"aa_ref": "I",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 565,
"cdna_start": 358,
"cds_end": null,
"cds_length": 457,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000411611.1",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388215.1",
"strand": true,
"transcript": "ENST00000411611.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 316,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": null,
"cds_end": null,
"cds_length": 951,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011528978.3",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.-145A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527280.1",
"strand": true,
"transcript": "XM_011528978.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 370,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": null,
"cds_end": null,
"cds_length": 1113,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930362.1",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "c.60-546A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600421.1",
"strand": true,
"transcript": "ENST00000930362.1",
"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": 3992,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000488738.5",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "n.310A>G",
"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": "ENST00000488738.5",
"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": 1105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_936601.4",
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"hgvs_c": "n.312A>G",
"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_936601.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs114626579",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013686275,
"gene_hgnc_id": 16192,
"gene_symbol": "SLC17A9",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136863,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.451,
"pos": 62956895,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.084,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_022082.4"
}
]
}