← 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: 9-128105775-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128105775&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128105775,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001330988.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Thr277Ser",
"transcript": "NM_001330988.2",
"protein_id": "NP_001317917.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 515,
"cds_start": 830,
"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": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Thr277Ser",
"transcript": "ENST00000373069.10",
"protein_id": "ENSP00000362160.5",
"transcript_support_level": 5,
"aa_start": 277,
"aa_end": null,
"aa_length": 515,
"cds_start": 830,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "ENST00000373068.6",
"protein_id": "ENSP00000362159.2",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 503,
"cds_start": 794,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.788C>G",
"hgvs_p": "p.Thr263Ser",
"transcript": "ENST00000373066.9",
"protein_id": "ENSP00000362157.5",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 501,
"cds_start": 788,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.752C>G",
"hgvs_p": "p.Thr251Ser",
"transcript": "ENST00000432073.6",
"protein_id": "ENSP00000410053.2",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 489,
"cds_start": 752,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.692C>G",
"hgvs_p": "p.Thr231Ser",
"transcript": "ENST00000373064.9",
"protein_id": "ENSP00000362155.5",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 469,
"cds_start": 692,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.908C>G",
"hgvs_p": "p.Thr303Ser",
"transcript": "ENST00000682371.1",
"protein_id": "ENSP00000508277.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 541,
"cds_start": 908,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "NM_001006641.4",
"protein_id": "NP_001006642.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 503,
"cds_start": 794,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.788C>G",
"hgvs_p": "p.Thr263Ser",
"transcript": "NM_001265614.3",
"protein_id": "NP_001252543.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 501,
"cds_start": 788,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.752C>G",
"hgvs_p": "p.Thr251Ser",
"transcript": "NM_001006642.4",
"protein_id": "NP_001006643.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 489,
"cds_start": 752,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Thr243Ser",
"transcript": "NM_001387057.1",
"protein_id": "NP_001373986.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 481,
"cds_start": 728,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.692C>G",
"hgvs_p": "p.Thr231Ser",
"transcript": "NM_052901.5",
"protein_id": "NP_443133.2",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 469,
"cds_start": 692,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.635C>G",
"hgvs_p": "p.Thr212Ser",
"transcript": "ENST00000971448.1",
"protein_id": "ENSP00000641507.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 450,
"cds_start": 635,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.419C>G",
"hgvs_p": "p.Thr140Ser",
"transcript": "ENST00000683206.1",
"protein_id": "ENSP00000506909.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 378,
"cds_start": 419,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.784-375C>G",
"hgvs_p": null,
"transcript": "ENST00000971447.1",
"protein_id": "ENSP00000641506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.748-578C>G",
"hgvs_p": null,
"transcript": "ENST00000971446.1",
"protein_id": "ENSP00000641505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "c.118-578C>G",
"hgvs_p": null,
"transcript": "ENST00000466983.1",
"protein_id": "ENSP00000418600.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "n.1073C>G",
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A25",
"gene_hgnc_id": 20663,
"hgvs_c": "n.795C>G",
"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": "rs369203375",
"frequency_reference_population": 0.000008209653,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000820965,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18799954652786255,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.305,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0729,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.063,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330988.2",
"gene_symbol": "SLC25A25",
"hgnc_id": 20663,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.830C>G",
"hgvs_p": "p.Thr277Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}