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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: 16-29993345-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29993345&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "HIRIP3",
"hgnc_id": 4917,
"hgvs_c": "c.1533G>A",
"hgvs_p": "p.Trp511*",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_003609.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.62,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 556,
"aa_ref": "W",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1533,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_003609.5",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.1533G>A",
"hgvs_p": "p.Trp511*",
"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": "*",
"aa_end": null,
"aa_length": 556,
"aa_ref": "W",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1533,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000279392.8",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.1533G>A",
"hgvs_p": "p.Trp511*",
"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": "*",
"aa_end": null,
"aa_length": 558,
"aa_ref": "W",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1539,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000948389.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Trp513*",
"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": "*",
"aa_end": null,
"aa_length": 553,
"aa_ref": "W",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1662,
"cds_start": 1524,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000918288.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.1524G>A",
"hgvs_p": "p.Trp508*",
"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": "*",
"aa_end": null,
"aa_length": 551,
"aa_ref": "W",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 2033,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1518,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000948388.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Trp506*",
"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": "*",
"aa_end": null,
"aa_length": 286,
"aa_ref": "W",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1080,
"cdna_start": 730,
"cds_end": null,
"cds_length": 861,
"cds_start": 723,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000948390.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.723G>A",
"hgvs_p": "p.Trp241*",
"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": "*",
"aa_end": null,
"aa_length": 281,
"aa_ref": "W",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1071,
"cdna_start": 719,
"cds_end": null,
"cds_length": 846,
"cds_start": 708,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000873673.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.708G>A",
"hgvs_p": "p.Trp236*",
"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": "*",
"aa_end": null,
"aa_length": 253,
"aa_ref": "W",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 762,
"cds_start": 624,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000873671.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.624G>A",
"hgvs_p": "p.Trp208*",
"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": "*",
"aa_end": null,
"aa_length": 244,
"aa_ref": "W",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 735,
"cds_start": 597,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000873670.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.597G>A",
"hgvs_p": "p.Trp199*",
"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": "*",
"aa_end": null,
"aa_length": 242,
"aa_ref": "W",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 729,
"cds_start": 591,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000873672.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.591G>A",
"hgvs_p": "p.Trp197*",
"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": "*",
"aa_end": null,
"aa_length": 240,
"aa_ref": "W",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 723,
"cds_start": 585,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000873668.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.585G>A",
"hgvs_p": "p.Trp195*",
"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": "*",
"aa_end": null,
"aa_length": 203,
"aa_ref": "W",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1965,
"cdna_start": 955,
"cds_end": null,
"cds_length": 612,
"cds_start": 474,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000873669.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.474G>A",
"hgvs_p": "p.Trp158*",
"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": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2110,
"cdna_start": null,
"cds_end": null,
"cds_length": 528,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001197323.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.*67G>A",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 988,
"cdna_start": null,
"cds_end": null,
"cds_length": 528,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000564026.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "c.*67G>A",
"hgvs_p": null,
"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": 6,
"exon_rank_end": null,
"feature": "ENST00000563053.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "n.1337G>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": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000563680.1",
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"hgvs_c": "n.*122G>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": "ENST00000563680.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs570816593",
"effect": "stop_gained",
"frequency_reference_population": 7.155103e-7,
"gene_hgnc_id": 4917,
"gene_symbol": "HIRIP3",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 7.1551e-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": "Uncertain_significance",
"phylop100way_score": 4.069,
"pos": 29993345,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"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"
}
]
}