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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: X-65502568-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=65502568&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": "ZC3H12B",
"hgnc_id": 17407,
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001010888.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LAS1L",
"hgnc_id": 25726,
"hgvs_c": "c.1877-3409G>A",
"hgvs_p": null,
"inheritance_mode": "Unknown,XL",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000677969.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.48,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.47999998927116394,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8269,
"cdna_start": 2950,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001010888.4",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338957.5",
"protein_coding": true,
"protein_id": "NP_001010888.3",
"strand": true,
"transcript": "NM_001010888.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8269,
"cdna_start": 2950,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000338957.5",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001010888.4",
"protein_coding": true,
"protein_id": "ENSP00000340839.4",
"strand": true,
"transcript": "ENST00000338957.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4546,
"cdna_start": 2433,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888353.1",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558412.1",
"strand": true,
"transcript": "ENST00000888353.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7701,
"cdna_start": 2382,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000916775.1",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586834.1",
"strand": true,
"transcript": "ENST00000916775.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 707,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1483,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000696370.1",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Arg495*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512584.1",
"strand": true,
"transcript": "ENST00000696370.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7502,
"cdna_start": 2183,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011530939.3",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529241.1",
"strand": true,
"transcript": "XM_011530939.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12059,
"cdna_start": 6740,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017029479.2",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884968.1",
"strand": true,
"transcript": "XM_017029479.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11516,
"cdna_start": 6197,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017029480.2",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884969.1",
"strand": true,
"transcript": "XM_017029480.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11511,
"cdna_start": 6192,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017029481.2",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884970.1",
"strand": true,
"transcript": "XM_017029481.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11421,
"cdna_start": 6102,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017029482.2",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884971.1",
"strand": true,
"transcript": "XM_017029482.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11217,
"cdna_start": 5898,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017029483.2",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884972.1",
"strand": true,
"transcript": "XM_017029483.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8123,
"cdna_start": 2804,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017029484.2",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884973.1",
"strand": true,
"transcript": "XM_017029484.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8214,
"cdna_start": 2895,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047442074.1",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298030.1",
"strand": true,
"transcript": "XM_047442074.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8218,
"cdna_start": 2899,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047442075.1",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298031.1",
"strand": true,
"transcript": "XM_047442075.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8309,
"cdna_start": 2990,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047442076.1",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298032.1",
"strand": true,
"transcript": "XM_047442076.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8157,
"cdna_start": 2838,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047442077.1",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298033.1",
"strand": true,
"transcript": "XM_047442077.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_length": 836,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7953,
"cdna_start": 2634,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047442078.1",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298034.1",
"strand": true,
"transcript": "XM_047442078.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_length": 836,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8248,
"cdna_start": 2929,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047442079.1",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298035.1",
"strand": true,
"transcript": "XM_047442079.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7858,
"cdna_start": 2539,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047442080.1",
"gene_hgnc_id": 17407,
"gene_symbol": "ZC3H12B",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298036.1",
"strand": true,
"transcript": "XM_047442080.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 634,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1957,
"cdna_start": null,
"cds_end": null,
"cds_length": 1905,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677969.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1877-3409G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503410.1",
"strand": false,
"transcript": "ENST00000677969.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 366,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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