← 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: 22-31267789-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31267789&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LIMK2",
"hgnc_id": 6614,
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Arg360His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001031801.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.8081,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6415926814079285,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_005569.4",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000331728.9",
"protein_coding": true,
"protein_id": "NP_005560.1",
"strand": true,
"transcript": "NM_005569.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000331728.9",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005569.4",
"protein_coding": true,
"protein_id": "ENSP00000332687.4",
"strand": true,
"transcript": "ENST00000331728.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 686,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1079,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000340552.4",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Arg360His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339916.4",
"strand": true,
"transcript": "ENST00000340552.4",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 617,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3462,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1079,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000333611.8",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Arg360His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000330470.4",
"strand": true,
"transcript": "ENST00000333611.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5004,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000887560.1",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557619.1",
"strand": true,
"transcript": "ENST00000887560.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 686,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1079,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001031801.2",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Arg360His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001026971.1",
"strand": true,
"transcript": "NM_001031801.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 656,
"aa_ref": "R",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000887563.1",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557622.1",
"strand": true,
"transcript": "ENST00000887563.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000887565.1",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557624.1",
"strand": true,
"transcript": "ENST00000887565.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 646,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3731,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000887562.1",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557621.1",
"strand": true,
"transcript": "ENST00000887562.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 634,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3655,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000961696.1",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631755.1",
"strand": true,
"transcript": "ENST00000961696.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 629,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1890,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000406516.5",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.908G>A",
"hgvs_p": "p.Arg303His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384602.1",
"strand": true,
"transcript": "ENST00000406516.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 617,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3826,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1079,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_016733.3",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Arg360His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057952.1",
"strand": true,
"transcript": "NM_016733.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000937842.1",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607901.1",
"strand": true,
"transcript": "ENST00000937842.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3519,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 1728,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937843.1",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607902.1",
"strand": true,
"transcript": "ENST00000937843.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 537,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3383,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1614,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961695.1",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631754.1",
"strand": true,
"transcript": "ENST00000961695.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3256,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1482,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000887564.1",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557623.1",
"strand": true,
"transcript": "ENST00000887564.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2981,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1179,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000887561.1",
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Arg135His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557620.1",
"strand": true,
"transcript": "ENST00000887561.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2229874",
"effect": "missense_variant",
"frequency_reference_population": 0.000008758945,
"gene_hgnc_id": 6614,
"gene_symbol": "LIMK2",
"gnomad_exomes_ac": 11,
"gnomad_exomes_af": 0.00000760667,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197024,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"pos": 31267789,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.603,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001031801.2"
}
]
}