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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: 5-6632679-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=6632679&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NSUN2",
"hgnc_id": 25994,
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_017755.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3400000035762787,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 767,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3056,
"cdna_start": 239,
"cds_end": null,
"cds_length": 2304,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_017755.6",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264670.11",
"protein_coding": true,
"protein_id": "NP_060225.4",
"strand": false,
"transcript": "NM_017755.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 767,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3056,
"cdna_start": 239,
"cds_end": null,
"cds_length": 2304,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000264670.11",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017755.6",
"protein_coding": true,
"protein_id": "ENSP00000264670.6",
"strand": false,
"transcript": "ENST00000264670.11",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 775,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3102,
"cdna_start": 261,
"cds_end": null,
"cds_length": 2328,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000902915.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572974.1",
"strand": false,
"transcript": "ENST00000902915.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 774,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3335,
"cdna_start": 499,
"cds_end": null,
"cds_length": 2325,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000939214.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609273.1",
"strand": false,
"transcript": "ENST00000939214.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 765,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 240,
"cds_end": null,
"cds_length": 2298,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000939216.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609275.1",
"strand": false,
"transcript": "ENST00000939216.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 761,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 239,
"cds_end": null,
"cds_length": 2286,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000902922.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572981.1",
"strand": false,
"transcript": "ENST00000902922.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 761,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 245,
"cds_end": null,
"cds_length": 2286,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000940950.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611009.1",
"strand": false,
"transcript": "ENST00000940950.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 756,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3269,
"cdna_start": 486,
"cds_end": null,
"cds_length": 2271,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000902914.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572973.1",
"strand": false,
"transcript": "ENST00000902914.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 739,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 239,
"cds_end": null,
"cds_length": 2220,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000902920.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572979.1",
"strand": false,
"transcript": "ENST00000902920.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 486,
"cds_end": null,
"cds_length": 2211,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000902913.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572972.1",
"strand": false,
"transcript": "ENST00000902913.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 732,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2951,
"cdna_start": 239,
"cds_end": null,
"cds_length": 2199,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001193455.2",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180384.1",
"strand": false,
"transcript": "NM_001193455.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 732,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 237,
"cds_end": null,
"cds_length": 2199,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000506139.5",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420957.1",
"strand": false,
"transcript": "ENST00000506139.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 730,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2944,
"cdna_start": 238,
"cds_end": null,
"cds_length": 2193,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000939217.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609276.1",
"strand": false,
"transcript": "ENST00000939217.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 726,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 261,
"cds_end": null,
"cds_length": 2181,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000939215.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609274.1",
"strand": false,
"transcript": "ENST00000939215.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 721,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 237,
"cds_end": null,
"cds_length": 2166,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000902918.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572977.1",
"strand": false,
"transcript": "ENST00000902918.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 629,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 242,
"cds_end": null,
"cds_length": 1890,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000902917.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572976.1",
"strand": false,
"transcript": "ENST00000902917.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 580,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 246,
"cds_end": null,
"cds_length": 1743,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000902916.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572975.1",
"strand": false,
"transcript": "ENST00000902916.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 555,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2415,
"cdna_start": 242,
"cds_end": null,
"cds_length": 1668,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000902921.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572980.1",
"strand": false,
"transcript": "ENST00000902921.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 553,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2410,
"cdna_start": 239,
"cds_end": null,
"cds_length": 1662,
"cds_start": 174,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000902919.1",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Val58Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572978.1",
"strand": false,
"transcript": "ENST00000902919.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000504374.5",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "n.174G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421783.1",
"strand": false,
"transcript": "ENST00000504374.5",
"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": 2971,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_037947.2",
"gene_hgnc_id": 25994,
"gene_symbol": "NSUN2",
"hgvs_c": "n.239G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
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