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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: 17-15628758-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15628758&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TRIM16",
"hgnc_id": 17241,
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_006470.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000251537",
"hgnc_id": null,
"hgvs_c": "c.1283+269C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000455584.2",
"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": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3499999940395355,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3358,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001348119.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649191.2",
"protein_coding": true,
"protein_id": "NP_001335048.1",
"strand": false,
"transcript": "NM_001348119.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3358,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000649191.2",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001348119.1",
"protein_coding": true,
"protein_id": "ENSP00000497185.2",
"strand": false,
"transcript": "ENST00000649191.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 2109,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000336708.11",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338989.7",
"strand": false,
"transcript": "ENST00000336708.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 348,
"aa_ref": "L",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 1047,
"cds_start": 904,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000577886.5",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Leu302Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462903.1",
"strand": false,
"transcript": "ENST00000577886.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 953,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5514,
"cdna_start": null,
"cds_end": null,
"cds_length": 2862,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455584.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000251537",
"hgvs_c": "c.1283+269C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402644.2",
"strand": false,
"transcript": "ENST00000455584.2",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3110,
"cdna_start": 2318,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001348120.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335049.1",
"strand": false,
"transcript": "NM_001348120.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2973,
"cdna_start": 2181,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_006470.4",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006461.3",
"strand": false,
"transcript": "NM_006470.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000578237.5",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463188.1",
"strand": false,
"transcript": "ENST00000578237.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3122,
"cdna_start": 2314,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000852769.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522828.1",
"strand": false,
"transcript": "ENST00000852769.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3348,
"cdna_start": 2556,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000932631.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602690.1",
"strand": false,
"transcript": "ENST00000932631.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4384,
"cdna_start": 3594,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000932632.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602691.1",
"strand": false,
"transcript": "ENST00000932632.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 2549,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000932633.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602692.1",
"strand": false,
"transcript": "ENST00000932633.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 1992,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000932634.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602693.1",
"strand": false,
"transcript": "ENST00000932634.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3432,
"cdna_start": 2641,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967546.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637605.1",
"strand": false,
"transcript": "ENST00000967546.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4044,
"cdna_start": 3253,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000967547.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637606.1",
"strand": false,
"transcript": "ENST00000967547.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2817,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000967548.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637607.1",
"strand": false,
"transcript": "ENST00000967548.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3002,
"cdna_start": 2204,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000967549.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637608.1",
"strand": false,
"transcript": "ENST00000967549.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 2454,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967550.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637609.1",
"strand": false,
"transcript": "ENST00000967550.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": 2279,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000967551.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637610.1",
"strand": false,
"transcript": "ENST00000967551.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2709,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000967552.1",
"gene_hgnc_id": 17241,
"gene_symbol": "TRIM16",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Leu518Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637611.1",
"strand": false,
"transcript": "ENST00000967552.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
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