← 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: X-74524762-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=74524762&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC16A2",
"hgnc_id": 10923,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Gly327Arg",
"inheritance_mode": "XL",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_006517.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9964,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.34,
"chr": "X",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Allan-Herndon-Dudley syndrome,Decreased activity of the pyruvate dehydrogenase complex,Spastic paraplegia,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:4",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9844522476196289,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 539,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1620,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_006517.5",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Gly327Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000587091.6",
"protein_coding": true,
"protein_id": "NP_006508.2",
"strand": true,
"transcript": "NM_006517.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 539,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1620,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000587091.6",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Gly327Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006517.5",
"protein_coding": true,
"protein_id": "ENSP00000465734.1",
"strand": true,
"transcript": "ENST00000587091.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 577,
"aa_ref": "G",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4200,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1093,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000878592.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Gly365Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548651.1",
"strand": true,
"transcript": "ENST00000878592.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 565,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000922847.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592906.1",
"strand": true,
"transcript": "ENST00000922847.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 561,
"aa_ref": "G",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4306,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1045,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000922843.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.1045G>A",
"hgvs_p": "p.Gly349Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592902.1",
"strand": true,
"transcript": "ENST00000922843.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 537,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2846,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1614,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878593.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Gly327Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548652.1",
"strand": true,
"transcript": "ENST00000878593.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4022,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 1530,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878591.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Gly327Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548650.1",
"strand": true,
"transcript": "ENST00000878591.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 495,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1488,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000961799.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Gly327Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631858.1",
"strand": true,
"transcript": "ENST00000961799.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 491,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4037,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1476,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922844.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Gly327Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592903.1",
"strand": true,
"transcript": "ENST00000922844.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1443,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922846.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Gly268Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592905.1",
"strand": true,
"transcript": "ENST00000922846.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1338,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878588.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Gly233Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548647.1",
"strand": true,
"transcript": "ENST00000878588.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 397,
"aa_ref": "G",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3694,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1194,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878590.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Gly233Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548649.1",
"strand": true,
"transcript": "ENST00000878590.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 228,
"aa_ref": "G",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1886,
"cdna_start": 419,
"cds_end": null,
"cds_length": 687,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000590447.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466213.1",
"strand": true,
"transcript": "ENST00000590447.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 461,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3894,
"cdna_start": null,
"cds_end": null,
"cds_length": 1386,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878589.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.792+187G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548648.1",
"strand": true,
"transcript": "ENST00000878589.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 216,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": null,
"cds_end": null,
"cds_length": 651,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922845.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "c.431-6571G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592904.1",
"strand": true,
"transcript": "ENST00000922845.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3893,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000636771.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "n.*680G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490445.1",
"strand": true,
"transcript": "ENST00000636771.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3893,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000636771.1",
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"hgvs_c": "n.*680G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490445.1",
"strand": true,
"transcript": "ENST00000636771.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs587784383",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 10923,
"gene_symbol": "SLC16A2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Allan-Herndon-Dudley syndrome|Decreased activity of the pyruvate dehydrogenase complex|not provided|Spastic paraplegia",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.599,
"pos": 74524762,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.726,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_006517.5"
}
]
}