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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-40597293-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=40597293&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"PP5",
"BP4",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ATP6AP2",
"hgnc_id": 18305,
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Ser115Ser",
"inheritance_mode": "XL,Unknown",
"pathogenic_score": 3,
"score": 1,
"transcript": "NM_005765.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5,BP4,BP7",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2288,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "X",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "X-linked parkinsonism-spasticity syndrome",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05000000074505806,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 350,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 441,
"cds_end": null,
"cds_length": 1053,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_005765.3",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Ser115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000636580.2",
"protein_coding": true,
"protein_id": "NP_005756.2",
"strand": true,
"transcript": "NM_005765.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 350,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 441,
"cds_end": null,
"cds_length": 1053,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000636580.2",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Ser115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005765.3",
"protein_coding": true,
"protein_id": "ENSP00000490083.1",
"strand": true,
"transcript": "ENST00000636580.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000636639.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "n.345C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490382.1",
"strand": true,
"transcript": "ENST00000636639.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 367,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2079,
"cdna_start": 441,
"cds_end": null,
"cds_length": 1104,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901377.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Ser115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571436.1",
"strand": true,
"transcript": "ENST00000901377.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 349,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2022,
"cdna_start": 453,
"cds_end": null,
"cds_length": 1050,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000378438.9",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Ser115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367697.5",
"strand": true,
"transcript": "ENST00000378438.9",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 345,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1403,
"cdna_start": 441,
"cds_end": null,
"cds_length": 1038,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000636196.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Ser115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490675.1",
"strand": true,
"transcript": "ENST00000636196.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 332,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2025,
"cdna_start": 489,
"cds_end": null,
"cds_length": 999,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901375.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Ser115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571434.1",
"strand": true,
"transcript": "ENST00000901375.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 331,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 462,
"cds_end": null,
"cds_length": 996,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000638153.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Ser115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490239.1",
"strand": true,
"transcript": "ENST00000638153.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 306,
"aa_ref": "S",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 309,
"cds_end": null,
"cds_length": 921,
"cds_start": 213,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972162.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Ser71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642221.1",
"strand": true,
"transcript": "ENST00000972162.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 304,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": 477,
"cds_end": null,
"cds_length": 915,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901376.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Ser115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571435.1",
"strand": true,
"transcript": "ENST00000901376.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 301,
"aa_ref": "S",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 443,
"cds_end": null,
"cds_length": 906,
"cds_start": 198,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000637526.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.198C>T",
"hgvs_p": "p.Ser66Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489845.1",
"strand": true,
"transcript": "ENST00000637526.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "S",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": 296,
"cds_end": null,
"cds_length": 882,
"cds_start": 294,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000637955.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.294C>T",
"hgvs_p": "p.Ser98Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489622.1",
"strand": true,
"transcript": "ENST00000637955.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 274,
"aa_ref": "S",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1929,
"cdna_start": 370,
"cds_end": null,
"cds_length": 825,
"cds_start": 117,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000637327.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.117C>T",
"hgvs_p": "p.Ser39Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490558.1",
"strand": true,
"transcript": "ENST00000637327.1",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 273,
"aa_ref": "S",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 310,
"cds_end": null,
"cds_length": 822,
"cds_start": 117,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000636251.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.117C>T",
"hgvs_p": "p.Ser39Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489920.1",
"strand": true,
"transcript": "ENST00000636251.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 262,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": 375,
"cds_end": null,
"cds_length": 789,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000447485.6",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Ser115Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411317.2",
"strand": true,
"transcript": "ENST00000447485.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 554,
"cdna_start": 368,
"cds_end": null,
"cds_length": 384,
"cds_start": 198,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000436783.6",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.198C>T",
"hgvs_p": "p.Ser66Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403969.2",
"strand": true,
"transcript": "ENST00000436783.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 324,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": null,
"cds_end": null,
"cds_length": 975,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972163.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.301-34C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642222.1",
"strand": true,
"transcript": "ENST00000972163.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 318,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": null,
"cds_end": null,
"cds_length": 957,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636409.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.301-234C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489819.1",
"strand": true,
"transcript": "ENST00000636409.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 317,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": null,
"cds_end": null,
"cds_length": 954,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636287.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.301-234C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490452.1",
"strand": true,
"transcript": "ENST00000636287.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 274,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": null,
"cds_end": null,
"cds_length": 825,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972161.1",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.169-234C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642220.1",
"strand": true,
"transcript": "ENST00000972161.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 272,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1093,
"cdna_start": null,
"cds_end": null,
"cds_length": 819,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423649.2",
"gene_hgnc_id": 18305,
"gene_symbol": "ATP6AP2",
"hgvs_c": "c.301-1388C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410105.2",
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