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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: 12-57517377-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57517377&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57517377,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000346473.8",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Phe10Phe",
"transcript": "NM_004083.6",
"protein_id": "NP_004074.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 169,
"cds_start": 30,
"cds_end": null,
"cds_length": 510,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 903,
"mane_select": "ENST00000346473.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Phe10Phe",
"transcript": "ENST00000346473.8",
"protein_id": "ENSP00000340671.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 169,
"cds_start": 30,
"cds_end": null,
"cds_length": 510,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 903,
"mane_select": "NM_004083.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Phe33Phe",
"transcript": "ENST00000551116.5",
"protein_id": "ENSP00000448665.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 192,
"cds_start": 99,
"cds_end": null,
"cds_length": 579,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 1067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Phe33Phe",
"transcript": "ENST00000552740.5",
"protein_id": "ENSP00000447803.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 192,
"cds_start": 99,
"cds_end": null,
"cds_length": 579,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Phe33Phe",
"transcript": "NM_001195053.1",
"protein_id": "NP_001181982.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 192,
"cds_start": 99,
"cds_end": null,
"cds_length": 579,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Phe33Phe",
"transcript": "NM_001195054.1",
"protein_id": "NP_001181983.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 192,
"cds_start": 99,
"cds_end": null,
"cds_length": 579,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Phe33Phe",
"transcript": "NM_001195055.1",
"protein_id": "NP_001181984.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 192,
"cds_start": 99,
"cds_end": null,
"cds_length": 579,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Phe33Phe",
"transcript": "NM_001195056.1",
"protein_id": "NP_001181985.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 192,
"cds_start": 99,
"cds_end": null,
"cds_length": 579,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Phe10Phe",
"transcript": "NM_001195057.1",
"protein_id": "NP_001181986.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 169,
"cds_start": 30,
"cds_end": null,
"cds_length": 510,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Phe10Phe",
"transcript": "NM_001413641.1",
"protein_id": "NP_001400570.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 169,
"cds_start": 30,
"cds_end": null,
"cds_length": 510,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Phe10Phe",
"transcript": "NM_001413642.1",
"protein_id": "NP_001400571.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 169,
"cds_start": 30,
"cds_end": null,
"cds_length": 510,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Phe10Phe",
"transcript": "ENST00000547303.5",
"protein_id": "ENSP00000447188.1",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 169,
"cds_start": 30,
"cds_end": null,
"cds_length": 510,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Phe10Phe",
"transcript": "ENST00000623876.2",
"protein_id": "ENSP00000494844.1",
"transcript_support_level": 6,
"aa_start": 10,
"aa_end": null,
"aa_length": 169,
"cds_start": 30,
"cds_end": null,
"cds_length": 510,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Phe33Phe",
"transcript": "ENST00000547526.1",
"protein_id": "ENSP00000447503.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 144,
"cds_start": 99,
"cds_end": null,
"cds_length": 435,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 644,
"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": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.*1073G>A",
"hgvs_p": null,
"transcript": "ENST00000537638.6",
"protein_id": "ENSP00000446168.2",
"transcript_support_level": 2,
"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": 3592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.*1073G>A",
"hgvs_p": null,
"transcript": "ENST00000537638.6",
"protein_id": "ENSP00000446168.2",
"transcript_support_level": 2,
"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": 3592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "n.146-15C>T",
"hgvs_p": null,
"transcript": "NR_182182.1",
"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": 827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"dbsnp": "rs697221",
"frequency_reference_population": 0.14924604,
"hom_count_reference_population": 19096,
"allele_count_reference_population": 240567,
"gnomad_exomes_af": 0.146391,
"gnomad_genomes_af": 0.176645,
"gnomad_exomes_ac": 213695,
"gnomad_genomes_ac": 26872,
"gnomad_exomes_homalt": 16572,
"gnomad_genomes_homalt": 2524,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.037,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000346473.8",
"gene_symbol": "DDIT3",
"hgnc_id": 2726,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Phe10Phe"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000537638.6",
"gene_symbol": "MARS1",
"hgnc_id": 6898,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "n.*1073G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}