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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: 12-108562652-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=108562652&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 108562652,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_213595.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "c.30G>A",
"hgvs_p": "p.Arg10Arg",
"transcript": "NM_213595.4",
"protein_id": "NP_998760.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 167,
"cds_start": 30,
"cds_end": null,
"cds_length": 504,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 983,
"mane_select": "ENST00000311893.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "c.30G>A",
"hgvs_p": "p.Arg10Arg",
"transcript": "ENST00000311893.14",
"protein_id": "ENSP00000310623.9",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 167,
"cds_start": 30,
"cds_end": null,
"cds_length": 504,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 983,
"mane_select": "NM_213595.4",
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "n.30G>A",
"hgvs_p": null,
"transcript": "ENST00000539580.5",
"protein_id": "ENSP00000437854.1",
"transcript_support_level": 1,
"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": 1169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "c.-142G>A",
"hgvs_p": null,
"transcript": "ENST00000392807.8",
"protein_id": "ENSP00000376554.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "c.30G>A",
"hgvs_p": "p.Arg10Arg",
"transcript": "NM_001301141.1",
"protein_id": "NP_001288070.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 156,
"cds_start": 30,
"cds_end": null,
"cds_length": 471,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "c.30G>A",
"hgvs_p": "p.Arg10Arg",
"transcript": "ENST00000431221.6",
"protein_id": "ENSP00000411108.2",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 156,
"cds_start": 30,
"cds_end": null,
"cds_length": 471,
"cdna_start": 52,
"cdna_end": null,
"cdna_length": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "c.30G>A",
"hgvs_p": "p.Arg10Arg",
"transcript": "NM_001301140.1",
"protein_id": "NP_001288069.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 154,
"cds_start": 30,
"cds_end": null,
"cds_length": 465,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "c.30G>A",
"hgvs_p": "p.Arg10Arg",
"transcript": "NM_001320042.1",
"protein_id": "NP_001306971.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 154,
"cds_start": 30,
"cds_end": null,
"cds_length": 465,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 3305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "c.30G>A",
"hgvs_p": "p.Arg10Arg",
"transcript": "ENST00000535729.5",
"protein_id": "ENSP00000445598.1",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 154,
"cds_start": 30,
"cds_end": null,
"cds_length": 465,
"cdna_start": 52,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "c.30G>A",
"hgvs_p": "p.Arg10Arg",
"transcript": "ENST00000539593.1",
"protein_id": "ENSP00000443272.1",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 154,
"cds_start": 30,
"cds_end": null,
"cds_length": 465,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 1071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "c.30G>A",
"hgvs_p": "p.Arg10Arg",
"transcript": "ENST00000547005.5",
"protein_id": "ENSP00000446606.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 154,
"cds_start": 30,
"cds_end": null,
"cds_length": 465,
"cdna_start": 52,
"cdna_end": null,
"cdna_length": 795,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "n.36G>A",
"hgvs_p": null,
"transcript": "ENST00000535405.1",
"protein_id": null,
"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": 819,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "n.71G>A",
"hgvs_p": null,
"transcript": "ENST00000545932.5",
"protein_id": null,
"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": 3685,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "n.52G>A",
"hgvs_p": null,
"transcript": "ENST00000552072.5",
"protein_id": null,
"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": 738,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "n.1190G>A",
"hgvs_p": null,
"transcript": "NR_135127.1",
"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": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"hgvs_c": "c.-142G>A",
"hgvs_p": null,
"transcript": "NM_014301.4",
"protein_id": "NP_055116.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ISCU",
"gene_hgnc_id": 29882,
"dbsnp": "rs776009693",
"frequency_reference_population": 0.0000030548997,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000030549,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"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": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.05,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_213595.4",
"gene_symbol": "ISCU",
"hgnc_id": 29882,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.30G>A",
"hgvs_p": "p.Arg10Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}