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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: X-106822043-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=106822043&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 106822043,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017752.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8B",
"gene_hgnc_id": 24715,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "NM_017752.3",
"protein_id": "NP_060222.2",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 1120,
"cds_start": 427,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 5729,
"mane_select": "ENST00000357242.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8B",
"gene_hgnc_id": 24715,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000357242.10",
"protein_id": "ENSP00000349781.5",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 1120,
"cds_start": 427,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 5729,
"mane_select": "NM_017752.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8B",
"gene_hgnc_id": 24715,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000310452.6",
"protein_id": "ENSP00000310675.2",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 632,
"cds_start": 427,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8B",
"gene_hgnc_id": 24715,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000481617.6",
"protein_id": "ENSP00000421375.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 419,
"cds_start": 427,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8B",
"gene_hgnc_id": 24715,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000276175.7",
"protein_id": "ENSP00000276175.3",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 1114,
"cds_start": 427,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8B",
"gene_hgnc_id": 24715,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "NM_001441214.1",
"protein_id": "NP_001428143.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 1070,
"cds_start": 427,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 5579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8B",
"gene_hgnc_id": 24715,
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"transcript": "NM_001441215.1",
"protein_id": "NP_001428144.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1022,
"cds_start": 133,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8B",
"gene_hgnc_id": 24715,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "NM_198881.2",
"protein_id": "NP_942582.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 632,
"cds_start": 427,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8B",
"gene_hgnc_id": 24715,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "XM_047442229.1",
"protein_id": "XP_047298185.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 582,
"cds_start": 427,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8B",
"gene_hgnc_id": 24715,
"hgvs_c": "n.608G>A",
"hgvs_p": null,
"transcript": "XR_001755701.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MORC4",
"gene_hgnc_id": 23485,
"hgvs_c": "c.111-6257C>T",
"hgvs_p": null,
"transcript": "ENST00000604604.1",
"protein_id": "ENSP00000474750.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 37,
"cds_start": -4,
"cds_end": null,
"cds_length": 114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBC1D8B",
"gene_hgnc_id": 24715,
"dbsnp": "rs141400138",
"frequency_reference_population": 0.00003887404,
"hom_count_reference_population": 12,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000218721,
"gnomad_genomes_af": 0.000205822,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11819043755531311,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.2257,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.102,
"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": "Benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_017752.3",
"gene_symbol": "TBC1D8B",
"hgnc_id": 24715,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000604604.1",
"gene_symbol": "MORC4",
"hgnc_id": 23485,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.111-6257C>T",
"hgvs_p": null
}
],
"clinvar_disease": "TBC1D8B-related disorder,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided|TBC1D8B-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}