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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: 13-40799111-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=40799111&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 40799111,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014252.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A15",
"gene_hgnc_id": 10985,
"hgvs_c": "c.110T>C",
"hgvs_p": "p.Met37Thr",
"transcript": "NM_014252.4",
"protein_id": "NP_055067.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 301,
"cds_start": 110,
"cds_end": null,
"cds_length": 906,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": "ENST00000338625.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014252.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A15",
"gene_hgnc_id": 10985,
"hgvs_c": "c.110T>C",
"hgvs_p": "p.Met37Thr",
"transcript": "ENST00000338625.9",
"protein_id": "ENSP00000342267.4",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 301,
"cds_start": 110,
"cds_end": null,
"cds_length": 906,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": "NM_014252.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338625.9"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A15",
"gene_hgnc_id": 10985,
"hgvs_c": "c.110T>C",
"hgvs_p": "p.Met37Thr",
"transcript": "ENST00000707033.1",
"protein_id": "ENSP00000516711.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 301,
"cds_start": 110,
"cds_end": null,
"cds_length": 906,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707033.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A15",
"gene_hgnc_id": 10985,
"hgvs_c": "c.110T>C",
"hgvs_p": "p.Met37Thr",
"transcript": "ENST00000899653.1",
"protein_id": "ENSP00000569712.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 301,
"cds_start": 110,
"cds_end": null,
"cds_length": 906,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899653.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "SLC25A15",
"gene_hgnc_id": 10985,
"hgvs_c": "c.110T>C",
"hgvs_p": "p.Met37Thr",
"transcript": "ENST00000417731.5",
"protein_id": "ENSP00000415826.1",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 132,
"cds_start": 110,
"cds_end": null,
"cds_length": 399,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417731.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A15",
"gene_hgnc_id": 10985,
"hgvs_c": "n.110T>C",
"hgvs_p": null,
"transcript": "ENST00000470509.1",
"protein_id": "ENSP00000431429.1",
"transcript_support_level": 5,
"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": 511,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470509.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A15",
"gene_hgnc_id": 10985,
"hgvs_c": "n.431T>C",
"hgvs_p": null,
"transcript": "ENST00000478827.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1142,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.962A>G",
"hgvs_p": null,
"transcript": "ENST00000842303.1",
"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": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842303.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.480A>G",
"hgvs_p": null,
"transcript": "ENST00000842304.1",
"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": 1223,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842304.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.386A>G",
"hgvs_p": null,
"transcript": "ENST00000842305.1",
"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": 1129,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842305.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.705A>G",
"hgvs_p": null,
"transcript": "ENST00000842306.1",
"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": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842306.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.719A>G",
"hgvs_p": null,
"transcript": "ENST00000842307.1",
"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": 1462,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842307.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2P5",
"gene_hgnc_id": 42356,
"hgvs_c": "n.2236A>G",
"hgvs_p": null,
"transcript": "NR_038258.1",
"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": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_038258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2P5",
"gene_hgnc_id": 42356,
"hgvs_c": "n.2065A>G",
"hgvs_p": null,
"transcript": "NR_038259.1",
"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": 4191,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_038259.1"
}
],
"gene_symbol": "SLC25A15",
"gene_hgnc_id": 10985,
"dbsnp": "rs121908533",
"frequency_reference_population": 0.0000074346863,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752452,
"gnomad_genomes_af": 0.00000657168,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.960861325263977,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.905,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9488,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.097,
"phylop100way_prediction": "Uncertain_significance",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_014252.4",
"gene_symbol": "SLC25A15",
"hgnc_id": 10985,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.110T>C",
"hgvs_p": "p.Met37Thr"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_038258.1",
"gene_symbol": "TPTE2P5",
"hgnc_id": 42356,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2236A>G",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000842303.1",
"gene_symbol": "SUGT1P3",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.962A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}