← 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: 22-19176221-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19176221&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC25A1",
"hgnc_id": 10979,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"inheritance_mode": "AR,AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001256534.2",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LINC01311",
"hgnc_id": 50503,
"hgvs_c": "n.303+4197C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000804544.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM5,PP3_Moderate,PP5_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 42,
"alphamissense_prediction": null,
"alphamissense_score": 0.9932,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.37,
"chr": "22",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "D,L-2-hydroxyglutaric aciduria,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9284403920173645,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 311,
"aa_ref": "R",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 908,
"cds_end": null,
"cds_length": 936,
"cds_start": 845,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_005984.5",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000215882.10",
"protein_coding": true,
"protein_id": "NP_005975.1",
"strand": false,
"transcript": "NM_005984.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 311,
"aa_ref": "R",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 908,
"cds_end": null,
"cds_length": 936,
"cds_start": 845,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000215882.10",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005984.5",
"protein_coding": true,
"protein_id": "ENSP00000215882.5",
"strand": false,
"transcript": "ENST00000215882.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 324,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1645,
"cdna_start": 999,
"cds_end": null,
"cds_length": 975,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000880508.1",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550567.1",
"strand": false,
"transcript": "ENST00000880508.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1656,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 957,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001256534.2",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243463.1",
"strand": false,
"transcript": "NM_001256534.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 314,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1556,
"cdna_start": 917,
"cds_end": null,
"cds_length": 945,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000880513.1",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550572.1",
"strand": false,
"transcript": "ENST00000880513.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 312,
"aa_ref": "R",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": 916,
"cds_end": null,
"cds_length": 939,
"cds_start": 848,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000880511.1",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550570.1",
"strand": false,
"transcript": "ENST00000880511.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 304,
"aa_ref": "R",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1562,
"cdna_start": 916,
"cds_end": null,
"cds_length": 915,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000880509.1",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550568.1",
"strand": false,
"transcript": "ENST00000880509.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 294,
"aa_ref": "R",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1498,
"cdna_start": 858,
"cds_end": null,
"cds_length": 885,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000880512.1",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550571.1",
"strand": false,
"transcript": "ENST00000880512.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 291,
"aa_ref": "R",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": 877,
"cds_end": null,
"cds_length": 876,
"cds_start": 785,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000880510.1",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550569.1",
"strand": false,
"transcript": "ENST00000880510.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 273,
"aa_ref": "R",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": 794,
"cds_end": null,
"cds_length": 822,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000923188.1",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593247.1",
"strand": false,
"transcript": "ENST00000923188.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 208,
"aa_ref": "R",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1510,
"cdna_start": 870,
"cds_end": null,
"cds_length": 627,
"cds_start": 536,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001287387.2",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Arg179His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274316.1",
"strand": false,
"transcript": "NM_001287387.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 208,
"aa_ref": "R",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1514,
"cdna_start": 886,
"cds_end": null,
"cds_length": 627,
"cds_start": 536,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000451283.5",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Arg179His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401480.1",
"strand": false,
"transcript": "ENST00000451283.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000470922.5",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "n.987G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000470922.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1409,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_046298.3",
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"hgvs_c": "n.769G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_046298.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1008,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000804544.1",
"gene_hgnc_id": 50503,
"gene_symbol": "LINC01311",
"hgvs_c": "n.303+4197C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000804544.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs431905510",
"effect": "missense_variant",
"frequency_reference_population": 0.000026156587,
"gene_hgnc_id": 10979,
"gene_symbol": "SLC25A1",
"gnomad_exomes_ac": 39,
"gnomad_exomes_af": 0.0000268189,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197996,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "D,L-2-hydroxyglutaric aciduria|not provided",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.85,
"pos": 19176221,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.916,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001256534.2"
}
]
}