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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: 4-7061167-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=7061167&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 7061167,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025196.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Ile",
"transcript": "NM_025196.4",
"protein_id": "NP_079472.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 217,
"cds_start": 349,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264954.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025196.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Ile",
"transcript": "ENST00000264954.5",
"protein_id": "ENSP00000264954.4",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 217,
"cds_start": 349,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025196.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264954.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Val120Ile",
"transcript": "ENST00000869293.1",
"protein_id": "ENSP00000539352.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 220,
"cds_start": 358,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869293.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Val116Ile",
"transcript": "ENST00000869291.1",
"protein_id": "ENSP00000539350.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 216,
"cds_start": 346,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869291.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"hgvs_c": "c.316G>A",
"hgvs_p": "p.Val106Ile",
"transcript": "ENST00000915215.1",
"protein_id": "ENSP00000585274.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 206,
"cds_start": 316,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915215.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Val102Ile",
"transcript": "ENST00000869292.1",
"protein_id": "ENSP00000539351.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 202,
"cds_start": 304,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869292.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Thr62Thr",
"transcript": "ENST00000706689.1",
"protein_id": "ENSP00000516503.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 82,
"cds_start": 186,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706689.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"hgvs_c": "c.295-180G>A",
"hgvs_p": null,
"transcript": "ENST00000915216.1",
"protein_id": "ENSP00000585275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": null,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915216.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"hgvs_c": "n.1557G>A",
"hgvs_p": null,
"transcript": "ENST00000504920.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000504920.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"hgvs_c": "n.405G>A",
"hgvs_p": null,
"transcript": "ENST00000509696.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000509696.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"hgvs_c": "n.395G>A",
"hgvs_p": null,
"transcript": "ENST00000514056.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000514056.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"hgvs_c": "n.*342G>A",
"hgvs_p": null,
"transcript": "ENST00000706688.1",
"protein_id": "ENSP00000516502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706688.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"hgvs_c": "n.*342G>A",
"hgvs_p": null,
"transcript": "ENST00000706688.1",
"protein_id": "ENSP00000516502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706688.1"
}
],
"gene_symbol": "GRPEL1",
"gene_hgnc_id": 19696,
"dbsnp": "rs146608974",
"frequency_reference_population": 0.0006371022,
"hom_count_reference_population": 4,
"allele_count_reference_population": 1028,
"gnomad_exomes_af": 0.000455089,
"gnomad_genomes_af": 0.00238339,
"gnomad_exomes_ac": 665,
"gnomad_genomes_ac": 363,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01104310154914856,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.078,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.137,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_025196.4",
"gene_symbol": "GRPEL1",
"hgnc_id": 19696,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Ile"
}
],
"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
}