← Back to variant description
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: 16-29993667-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29993667&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HIRIP3",
"hgnc_id": 4917,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Ala461Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_003609.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1569,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3252611458301544,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 556,
"aa_ref": "A",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1381,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003609.5",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Ala461Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000279392.8",
"protein_coding": true,
"protein_id": "NP_003600.2",
"strand": false,
"transcript": "NM_003609.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 556,
"aa_ref": "A",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1381,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000279392.8",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Ala461Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003609.5",
"protein_coding": true,
"protein_id": "ENSP00000279392.3",
"strand": false,
"transcript": "ENST00000279392.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 558,
"aa_ref": "A",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 1868,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1387,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948389.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618448.1",
"strand": false,
"transcript": "ENST00000948389.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 553,
"aa_ref": "A",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1662,
"cds_start": 1381,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000918288.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Ala461Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588347.1",
"strand": false,
"transcript": "ENST00000918288.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 1896,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1381,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948388.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Ala461Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618447.1",
"strand": false,
"transcript": "ENST00000948388.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 286,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1080,
"cdna_start": 677,
"cds_end": null,
"cds_length": 861,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948390.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618449.1",
"strand": false,
"transcript": "ENST00000948390.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1071,
"cdna_start": 567,
"cds_end": null,
"cds_length": 846,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000873673.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Ala186Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543732.1",
"strand": false,
"transcript": "ENST00000873673.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 253,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 960,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000873671.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543730.1",
"strand": false,
"transcript": "ENST00000873671.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 244,
"aa_ref": "A",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 925,
"cds_end": null,
"cds_length": 735,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000873670.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Ala149Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543729.1",
"strand": false,
"transcript": "ENST00000873670.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 242,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": 925,
"cds_end": null,
"cds_length": 729,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000873672.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543731.1",
"strand": false,
"transcript": "ENST00000873672.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 919,
"cds_end": null,
"cds_length": 723,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000873668.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543727.1",
"strand": false,
"transcript": "ENST00000873668.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 203,
"aa_ref": "A",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1965,
"cdna_start": 803,
"cds_end": null,
"cds_length": 612,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000873669.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.322G>A",
"hgvs_p": "p.Ala108Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543728.1",
"strand": false,
"transcript": "ENST00000873669.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 175,
"aa_ref": "G",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2110,
"cdna_start": 934,
"cds_end": null,
"cds_length": 528,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001197323.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Gly148Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001184252.1",
"strand": false,
"transcript": "NM_001197323.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 175,
"aa_ref": "G",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 988,
"cdna_start": 481,
"cds_end": null,
"cds_length": 528,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000564026.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Gly148Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456824.1",
"strand": false,
"transcript": "ENST00000564026.1",
"transcript_support_level": 2
},
{
"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": 1686,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000563053.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "n.1185G>A",
"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": "ENST00000563053.1",
"transcript_support_level": 2
},
{
"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": 755,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000563680.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "n.555G>A",
"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": "ENST00000563680.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs368208784",
"effect": "missense_variant",
"frequency_reference_population": 6.852328e-7,
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.85233e-7,
"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": 0.585,
"pos": 29993667,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.08,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_003609.5"
}
]
}