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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: 7-94663530-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=94663530&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 94663530,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000612748.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Ser",
"transcript": "ENST00000612748.1",
"protein_id": "ENSP00000480676.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 783,
"cds_start": 202,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Gly26Ser",
"transcript": "ENST00000615790.5",
"protein_id": "ENSP00000482653.2",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 359,
"cds_start": 76,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 6394,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "ENST00000482108.1",
"protein_id": "ENSP00000417587.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Ser",
"transcript": "NM_001172437.2",
"protein_id": "NP_001165908.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 783,
"cds_start": 202,
"cds_end": null,
"cds_length": 2354,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 6629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Gly26Ser",
"transcript": "NM_001184961.1",
"protein_id": "NP_001171890.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 741,
"cds_start": 76,
"cds_end": null,
"cds_length": 2228,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 6618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Gly26Ser",
"transcript": "ENST00000612941.2",
"protein_id": "ENSP00000478744.2",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 741,
"cds_start": 76,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 6392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Ser",
"transcript": "NM_001172438.3",
"protein_id": "NP_001165909.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 401,
"cds_start": 202,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 6584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Ser",
"transcript": "ENST00000488574.5",
"protein_id": "ENSP00000418944.2",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 401,
"cds_start": 202,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Gly26Ser",
"transcript": "NM_001184962.2",
"protein_id": "NP_001171891.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 359,
"cds_start": 76,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 6573,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "NM_015068.3",
"protein_id": "NP_055883.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": -4,
"cds_end": null,
"cds_length": 2126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6618,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "ENST00000617526.4",
"protein_id": "ENSP00000481101.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": -4,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6392,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "NM_001040152.2",
"protein_id": "NP_001035242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6573,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "ENST00000613043.1",
"protein_id": "ENSP00000482046.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": -4,
"cds_end": null,
"cds_length": 94,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"hgvs_c": "n.307+101G>A",
"hgvs_p": null,
"transcript": "ENST00000493935.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PEG10",
"gene_hgnc_id": 14005,
"dbsnp": "rs1401603441",
"frequency_reference_population": 0.000003591918,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000359192,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07515653967857361,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"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": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.024,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000612748.1",
"gene_symbol": "PEG10",
"hgnc_id": 14005,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}