← Back to variant description
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: 12-6312329-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6312329&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6312329,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000684764.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "NM_001384598.1",
"protein_id": "NP_001371527.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 790,
"cds_start": 103,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": "ENST00000684764.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "ENST00000684764.1",
"protein_id": "ENSP00000506982.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 790,
"cds_start": 103,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": "NM_001384598.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "ENST00000011684.11",
"protein_id": "ENSP00000011684.7",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 790,
"cds_start": 103,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "ENST00000536531.5",
"protein_id": "ENSP00000442836.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 495,
"cds_start": 103,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "NM_001384604.1",
"protein_id": "NP_001371533.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 806,
"cds_start": 103,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "NM_001144856.2",
"protein_id": "NP_001138328.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 790,
"cds_start": 103,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "NM_018173.4",
"protein_id": "NP_060643.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 790,
"cds_start": 103,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "ENST00000396988.7",
"protein_id": "ENSP00000380185.3",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 790,
"cds_start": 103,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "NM_001384599.1",
"protein_id": "NP_001371528.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 789,
"cds_start": 103,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "NM_001384601.1",
"protein_id": "NP_001371530.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 511,
"cds_start": 103,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "NM_001384602.1",
"protein_id": "NP_001371531.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 495,
"cds_start": 103,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "XM_006718985.4",
"protein_id": "XP_006719048.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 776,
"cds_start": 103,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "XM_047429069.1",
"protein_id": "XP_047285025.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 776,
"cds_start": 103,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2944,
"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": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Leu27Leu",
"transcript": "NM_001384600.1",
"protein_id": "NP_001371529.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 768,
"cds_start": 81,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 2925,
"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": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Leu27Leu",
"transcript": "NM_001384603.1",
"protein_id": "NP_001371532.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 473,
"cds_start": 81,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 1623,
"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": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Leu27Leu",
"transcript": "XM_011520967.3",
"protein_id": "XP_011519269.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 768,
"cds_start": 81,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 2853,
"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": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Leu27Leu",
"transcript": "XM_047429070.1",
"protein_id": "XP_047285026.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 768,
"cds_start": 81,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2942,
"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": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Leu27Leu",
"transcript": "XM_047429071.1",
"protein_id": "XP_047285027.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 754,
"cds_start": 81,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 2883,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "n.210G>A",
"hgvs_p": null,
"transcript": "ENST00000538208.1",
"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": 404,
"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": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "n.338G>A",
"hgvs_p": null,
"transcript": "NR_169277.1",
"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": 3028,
"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": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"hgvs_c": "n.338G>A",
"hgvs_p": null,
"transcript": "NR_169278.1",
"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": 3072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLEKHG6",
"gene_hgnc_id": 25562,
"dbsnp": "rs740842",
"frequency_reference_population": 0.5618364,
"hom_count_reference_population": 253835,
"allele_count_reference_population": 887724,
"gnomad_exomes_af": 0.561869,
"gnomad_genomes_af": 0.561531,
"gnomad_exomes_ac": 802323,
"gnomad_genomes_ac": 85401,
"gnomad_exomes_homalt": 229412,
"gnomad_genomes_homalt": 24423,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000026391135179437697,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0755,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.297,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000684764.1",
"gene_symbol": "PLEKHG6",
"hgnc_id": 25562,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}