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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: 12-8851823-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=8851823&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 8851823,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000299698.12",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2274C>T",
"hgvs_p": "p.Asp758Asp",
"transcript": "NM_144670.6",
"protein_id": "NP_653271.3",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 1454,
"cds_start": 2274,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": "ENST00000299698.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2274C>T",
"hgvs_p": "p.Asp758Asp",
"transcript": "ENST00000299698.12",
"protein_id": "ENSP00000299698.7",
"transcript_support_level": 1,
"aa_start": 758,
"aa_end": null,
"aa_length": 1454,
"cds_start": 2274,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": "NM_144670.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.924C>T",
"hgvs_p": "p.Asp308Asp",
"transcript": "ENST00000541459.5",
"protein_id": "ENSP00000443174.1",
"transcript_support_level": 2,
"aa_start": 308,
"aa_end": null,
"aa_length": 1004,
"cds_start": 924,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.801C>T",
"hgvs_p": "p.Asp267Asp",
"transcript": "NM_001282424.3",
"protein_id": "NP_001269353.2",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 963,
"cds_start": 801,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.801C>T",
"hgvs_p": "p.Asp267Asp",
"transcript": "ENST00000539547.5",
"protein_id": "ENSP00000438292.1",
"transcript_support_level": 2,
"aa_start": 267,
"aa_end": null,
"aa_length": 963,
"cds_start": 801,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2313C>T",
"hgvs_p": "p.Asp771Asp",
"transcript": "XM_011520566.3",
"protein_id": "XP_011518868.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1467,
"cds_start": 2313,
"cds_end": null,
"cds_length": 4404,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2313C>T",
"hgvs_p": "p.Asp771Asp",
"transcript": "XM_011520567.3",
"protein_id": "XP_011518869.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1467,
"cds_start": 2313,
"cds_end": null,
"cds_length": 4404,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2310C>T",
"hgvs_p": "p.Asp770Asp",
"transcript": "XM_017018869.2",
"protein_id": "XP_016874358.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1466,
"cds_start": 2310,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 2341,
"cdna_end": null,
"cdna_length": 4882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2274C>T",
"hgvs_p": "p.Asp758Asp",
"transcript": "XM_017018870.2",
"protein_id": "XP_016874359.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 1454,
"cds_start": 2274,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2271C>T",
"hgvs_p": "p.Asp757Asp",
"transcript": "XM_047428387.1",
"protein_id": "XP_047284343.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 1453,
"cds_start": 2271,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "n.2305C>T",
"hgvs_p": null,
"transcript": "XR_001748594.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "n.2344C>T",
"hgvs_p": null,
"transcript": "XR_931275.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"dbsnp": "rs762980682",
"frequency_reference_population": 0.00002044526,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000171011,
"gnomad_genomes_af": 0.0000525707,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.362,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000299698.12",
"gene_symbol": "A2ML1",
"hgnc_id": 23336,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2274C>T",
"hgvs_p": "p.Asp758Asp"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}