← 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: 9-128106437-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128106437&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128106437,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330988.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.1129G>C",
"hgvs_p": "p.Gly377Arg",
"transcript": "NM_001330988.2",
"protein_id": "NP_001317917.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 515,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373069.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330988.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.1129G>C",
"hgvs_p": "p.Gly377Arg",
"transcript": "ENST00000373069.10",
"protein_id": "ENSP00000362160.5",
"transcript_support_level": 5,
"aa_start": 377,
"aa_end": null,
"aa_length": 515,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330988.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373069.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Gly365Arg",
"transcript": "ENST00000373068.6",
"protein_id": "ENSP00000362159.2",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 503,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373068.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.1087G>C",
"hgvs_p": "p.Gly363Arg",
"transcript": "ENST00000373066.9",
"protein_id": "ENSP00000362157.5",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 501,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373066.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Gly351Arg",
"transcript": "ENST00000432073.6",
"protein_id": "ENSP00000410053.2",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 489,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432073.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.991G>C",
"hgvs_p": "p.Gly331Arg",
"transcript": "ENST00000373064.9",
"protein_id": "ENSP00000362155.5",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 469,
"cds_start": 991,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373064.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.1207G>C",
"hgvs_p": "p.Gly403Arg",
"transcript": "ENST00000682371.1",
"protein_id": "ENSP00000508277.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 541,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682371.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Gly365Arg",
"transcript": "NM_001006641.4",
"protein_id": "NP_001006642.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 503,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006641.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.1087G>C",
"hgvs_p": "p.Gly363Arg",
"transcript": "NM_001265614.3",
"protein_id": "NP_001252543.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 501,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265614.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Gly351Arg",
"transcript": "NM_001006642.4",
"protein_id": "NP_001006643.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 489,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006642.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.1027G>C",
"hgvs_p": "p.Gly343Arg",
"transcript": "NM_001387057.1",
"protein_id": "NP_001373986.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 481,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387057.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.991G>C",
"hgvs_p": "p.Gly331Arg",
"transcript": "NM_052901.5",
"protein_id": "NP_443133.2",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 469,
"cds_start": 991,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052901.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.976G>C",
"hgvs_p": "p.Gly326Arg",
"transcript": "ENST00000971447.1",
"protein_id": "ENSP00000641506.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 464,
"cds_start": 976,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971447.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.934G>C",
"hgvs_p": "p.Gly312Arg",
"transcript": "ENST00000971448.1",
"protein_id": "ENSP00000641507.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 450,
"cds_start": 934,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971448.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.832G>C",
"hgvs_p": "p.Gly278Arg",
"transcript": "ENST00000971446.1",
"protein_id": "ENSP00000641505.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 416,
"cds_start": 832,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971446.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.718G>C",
"hgvs_p": "p.Gly240Arg",
"transcript": "ENST00000683206.1",
"protein_id": "ENSP00000506909.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 378,
"cds_start": 718,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683206.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.202G>C",
"hgvs_p": "p.Gly68Arg",
"transcript": "ENST00000466983.1",
"protein_id": "ENSP00000418600.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 164,
"cds_start": 202,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466983.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "n.1372G>C",
"hgvs_p": null,
"transcript": "ENST00000682638.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000682638.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "n.1094G>C",
"hgvs_p": null,
"transcript": "NR_049766.3",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_049766.3"
}
],
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"dbsnp": "rs754304263",
"frequency_reference_population": 0.00000495835,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000479032,
"gnomad_genomes_af": 0.00000657203,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9932369589805603,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.954,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8856,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001330988.2",
"gene_symbol": "SLC25A25",
"hgnc_id": 20663,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1129G>C",
"hgvs_p": "p.Gly377Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}