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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: 11-68027885-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68027885&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68027885,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000342456.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B1",
"gene_hgnc_id": 410,
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Leu451Leu",
"transcript": "NM_000694.4",
"protein_id": "NP_000685.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 468,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": "ENST00000342456.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B1",
"gene_hgnc_id": 410,
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Leu451Leu",
"transcript": "ENST00000342456.11",
"protein_id": "ENSP00000473990.2",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 468,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": "NM_000694.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B1",
"gene_hgnc_id": 410,
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Leu451Leu",
"transcript": "ENST00000614849.4",
"protein_id": "ENSP00000478486.1",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 468,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B1",
"gene_hgnc_id": 410,
"hgvs_c": "c.1242G>A",
"hgvs_p": "p.Leu414Leu",
"transcript": "ENST00000617288.4",
"protein_id": "ENSP00000481604.1",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 431,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B1",
"gene_hgnc_id": 410,
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Leu451Leu",
"transcript": "NM_001161473.3",
"protein_id": "NP_001154945.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 468,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B1",
"gene_hgnc_id": 410,
"hgvs_c": "c.1242G>A",
"hgvs_p": "p.Leu414Leu",
"transcript": "NM_001030010.3",
"protein_id": "NP_001025181.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 431,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B1",
"gene_hgnc_id": 410,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Leu334Leu",
"transcript": "NM_001290058.2",
"protein_id": "NP_001276987.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 351,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 2460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B1",
"gene_hgnc_id": 410,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Leu334Leu",
"transcript": "ENST00000612297.4",
"protein_id": "ENSP00000484901.1",
"transcript_support_level": 3,
"aa_start": 334,
"aa_end": null,
"aa_length": 351,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B1",
"gene_hgnc_id": 410,
"hgvs_c": "c.765G>A",
"hgvs_p": "p.Leu255Leu",
"transcript": "NM_001290059.2",
"protein_id": "NP_001276988.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 272,
"cds_start": 765,
"cds_end": null,
"cds_length": 819,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 2729,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B1",
"gene_hgnc_id": 410,
"hgvs_c": "n.4487G>A",
"hgvs_p": null,
"transcript": "ENST00000615368.4",
"protein_id": null,
"transcript_support_level": 5,
"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": 5884,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B1",
"gene_hgnc_id": 410,
"hgvs_c": "n.*761G>A",
"hgvs_p": null,
"transcript": "ENST00000619675.4",
"protein_id": "ENSP00000478632.1",
"transcript_support_level": 5,
"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": 1594,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B1",
"gene_hgnc_id": 410,
"hgvs_c": "n.*761G>A",
"hgvs_p": null,
"transcript": "ENST00000619675.4",
"protein_id": "ENSP00000478632.1",
"transcript_support_level": 5,
"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": 1594,
"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": "GLTC1",
"gene_hgnc_id": 56861,
"hgvs_c": "n.340+1399C>T",
"hgvs_p": null,
"transcript": "ENST00000532296.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 739,
"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": "GLTC1",
"gene_hgnc_id": 56861,
"hgvs_c": "n.279+1399C>T",
"hgvs_p": null,
"transcript": "NR_197583.1",
"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": 685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALDH3B1",
"gene_hgnc_id": 410,
"dbsnp": "rs3751082",
"frequency_reference_population": 0.19501303,
"hom_count_reference_population": 30395,
"allele_count_reference_population": 304867,
"gnomad_exomes_af": 0.195084,
"gnomad_genomes_af": 0.194355,
"gnomad_exomes_ac": 275290,
"gnomad_genomes_ac": 29577,
"gnomad_exomes_homalt": 27379,
"gnomad_genomes_homalt": 3016,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"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": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.624,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000342456.11",
"gene_symbol": "ALDH3B1",
"hgnc_id": 410,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Leu451Leu"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000532296.1",
"gene_symbol": "GLTC1",
"hgnc_id": 56861,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.340+1399C>T",
"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
}