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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: 12-71884902-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=71884902&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 71884902,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022771.6",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "NM_001146213.3",
"protein_id": "NP_001139685.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 674,
"cds_start": 435,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000485960.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146213.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "ENST00000485960.7",
"protein_id": "ENSP00000420678.2",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 674,
"cds_start": 435,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001146213.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485960.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "ENST00000550746.5",
"protein_id": "ENSP00000448182.1",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 691,
"cds_start": 435,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550746.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.138G>A",
"hgvs_p": "p.Met46Ile",
"transcript": "ENST00000491063.5",
"protein_id": "ENSP00000418091.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 277,
"cds_start": 138,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491063.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "n.343+4295G>A",
"hgvs_p": null,
"transcript": "ENST00000462788.6",
"protein_id": "ENSP00000418467.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000462788.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "NM_022771.6",
"protein_id": "NP_073608.4",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 691,
"cds_start": 435,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022771.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "ENST00000867028.1",
"protein_id": "ENSP00000537087.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 688,
"cds_start": 435,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867028.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Met153Ile",
"transcript": "ENST00000319106.12",
"protein_id": "ENSP00000318262.6",
"transcript_support_level": 2,
"aa_start": 153,
"aa_end": null,
"aa_length": 682,
"cds_start": 459,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319106.12"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "ENST00000867021.1",
"protein_id": "ENSP00000537080.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 680,
"cds_start": 435,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867021.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "NM_001385848.1",
"protein_id": "NP_001372777.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 672,
"cds_start": 435,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385848.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "ENST00000921411.1",
"protein_id": "ENSP00000591470.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 672,
"cds_start": 435,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921411.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "ENST00000867025.1",
"protein_id": "ENSP00000537084.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 671,
"cds_start": 435,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867025.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "ENST00000921410.1",
"protein_id": "ENSP00000591469.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 670,
"cds_start": 435,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921410.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "NM_001385849.1",
"protein_id": "NP_001372778.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 663,
"cds_start": 435,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385849.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "ENST00000867020.1",
"protein_id": "ENSP00000537079.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 663,
"cds_start": 435,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867020.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "NM_001385850.1",
"protein_id": "NP_001372779.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 654,
"cds_start": 435,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385850.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "ENST00000921412.1",
"protein_id": "ENSP00000591471.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 654,
"cds_start": 435,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921412.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "NM_001385851.1",
"protein_id": "NP_001372780.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 652,
"cds_start": 435,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385851.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.360G>A",
"hgvs_p": "p.Met120Ile",
"transcript": "NM_001385852.1",
"protein_id": "NP_001372781.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 649,
"cds_start": 360,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385852.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.360G>A",
"hgvs_p": "p.Met120Ile",
"transcript": "ENST00000867022.1",
"protein_id": "ENSP00000537081.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 649,
"cds_start": 360,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867022.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "NM_001385853.1",
"protein_id": "NP_001372782.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 635,
"cds_start": 435,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385853.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile",
"transcript": "ENST00000867023.1",
"protein_id": "ENSP00000537082.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 635,
"cds_start": 435,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
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"revel_prediction": "Benign",
"alphamissense_score": 0.6498,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.485,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_022771.6",
"gene_symbol": "TBC1D15",
"hgnc_id": 25694,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Met145Ile"
}
],
"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
}