← 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: 10-1000716-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=1000716&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 1000716,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012341.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Asp232His",
"transcript": "NM_012341.3",
"protein_id": "NP_036473.2",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 634,
"cds_start": 694,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360803.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012341.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Asp232His",
"transcript": "ENST00000360803.9",
"protein_id": "ENSP00000354040.4",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 634,
"cds_start": 694,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012341.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360803.9"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.730G>C",
"hgvs_p": "p.Asp244His",
"transcript": "ENST00000925422.1",
"protein_id": "ENSP00000595481.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 646,
"cds_start": 730,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925422.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Asp232His",
"transcript": "ENST00000925423.1",
"protein_id": "ENSP00000595482.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 641,
"cds_start": 694,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925423.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Asp232His",
"transcript": "ENST00000892149.1",
"protein_id": "ENSP00000562208.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 631,
"cds_start": 694,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892149.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Asp232His",
"transcript": "ENST00000892150.1",
"protein_id": "ENSP00000562209.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 612,
"cds_start": 694,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892150.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Asp232His",
"transcript": "ENST00000892145.1",
"protein_id": "ENSP00000562204.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 604,
"cds_start": 694,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892145.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.601G>C",
"hgvs_p": "p.Asp201His",
"transcript": "ENST00000925425.1",
"protein_id": "ENSP00000595484.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 603,
"cds_start": 601,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925425.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Asp232His",
"transcript": "ENST00000925424.1",
"protein_id": "ENSP00000595483.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 597,
"cds_start": 694,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925424.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Asp175His",
"transcript": "ENST00000892148.1",
"protein_id": "ENSP00000562207.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 577,
"cds_start": 523,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892148.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Asp232His",
"transcript": "ENST00000892147.1",
"protein_id": "ENSP00000562206.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 567,
"cds_start": 694,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892147.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Asp175His",
"transcript": "ENST00000925420.1",
"protein_id": "ENSP00000595479.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 547,
"cds_start": 523,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925420.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Asp185His",
"transcript": "XM_047424932.1",
"protein_id": "XP_047280888.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 587,
"cds_start": 553,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424932.1"
},
{
"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": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.655-232G>C",
"hgvs_p": null,
"transcript": "ENST00000892146.1",
"protein_id": "ENSP00000562205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892146.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "c.219+8057G>C",
"hgvs_p": null,
"transcript": "ENST00000925421.1",
"protein_id": "ENSP00000595480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925421.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"hgvs_c": "n.1573G>C",
"hgvs_p": null,
"transcript": "ENST00000491635.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000491635.1"
}
],
"gene_symbol": "GTPBP4",
"gene_hgnc_id": 21535,
"dbsnp": "rs752471400",
"frequency_reference_population": 0.000003188267,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000028243,
"gnomad_genomes_af": 0.00000658033,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5397180914878845,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.425,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3404,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.558,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012341.3",
"gene_symbol": "GTPBP4",
"hgnc_id": 21535,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Asp232His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}