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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: 12-50809588-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50809588&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "ATF1",
"hgnc_id": 783,
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Tyr127Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_001412960.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 625293,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "12",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.33000001311302185,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": 540,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_005171.5",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262053.8",
"protein_coding": true,
"protein_id": "NP_005162.1",
"strand": true,
"transcript": "NM_005171.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": 540,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000262053.8",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005171.5",
"protein_coding": true,
"protein_id": "ENSP00000262053.3",
"strand": true,
"transcript": "ENST00000262053.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2435,
"cdna_start": null,
"cds_end": null,
"cds_length": 411,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001412978.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.-102C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399907.1",
"strand": true,
"transcript": "NM_001412978.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": null,
"cds_end": null,
"cds_length": 411,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001412980.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.-322C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399909.1",
"strand": true,
"transcript": "NM_001412980.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 289,
"aa_ref": "Y",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 727,
"cds_end": null,
"cds_length": 870,
"cds_start": 381,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001412960.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Tyr127Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399889.1",
"strand": true,
"transcript": "NM_001412960.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 286,
"aa_ref": "Y",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 747,
"cds_end": null,
"cds_length": 861,
"cds_start": 372,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001412961.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.372C>T",
"hgvs_p": "p.Tyr124Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399890.1",
"strand": true,
"transcript": "NM_001412961.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 418,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001412962.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399891.1",
"strand": true,
"transcript": "NM_001412962.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": 616,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001412963.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399892.1",
"strand": true,
"transcript": "NM_001412963.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 383,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001412964.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399893.1",
"strand": true,
"transcript": "NM_001412964.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 411,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001412965.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399894.1",
"strand": true,
"transcript": "NM_001412965.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2274,
"cdna_start": 402,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001412966.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399895.1",
"strand": true,
"transcript": "NM_001412966.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": 430,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001412967.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399896.1",
"strand": true,
"transcript": "NM_001412967.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 726,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862770.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532829.1",
"strand": true,
"transcript": "ENST00000862770.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 777,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862771.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532830.1",
"strand": true,
"transcript": "ENST00000862771.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2486,
"cdna_start": 640,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862772.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532831.1",
"strand": true,
"transcript": "ENST00000862772.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 417,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862773.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532832.1",
"strand": true,
"transcript": "ENST00000862773.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 770,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862774.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532833.1",
"strand": true,
"transcript": "ENST00000862774.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 437,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862775.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532834.1",
"strand": true,
"transcript": "ENST00000862775.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 401,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862776.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532835.1",
"strand": true,
"transcript": "ENST00000862776.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 576,
"cds_end": null,
"cds_length": 816,
"cds_start": 327,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862777.1",
"gene_hgnc_id": 783,
"gene_symbol": "ATF1",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Tyr109Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532836.1",
"strand": true,
"transcript": "ENST00000862777.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "Y",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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