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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: 11-6615172-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6615172&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PP3",
"PP5_Very_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "TPP1",
"hgnc_id": 2073,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ser475Leu",
"inheritance_mode": "AR",
"pathogenic_score": 17,
"score": 17,
"transcript": "NM_000391.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3",
"PP5_Very_Strong"
],
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000285338",
"hgnc_id": null,
"hgvs_c": "n.629C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 15,
"score": 15,
"transcript": "ENST00000532191.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PP3,PP5_Very_Strong",
"acmg_score": 17,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.9782,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "11",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Autosomal recessive spinocerebellar ataxia 7,Neuronal ceroid lipofuscinosis,Neuronal ceroid lipofuscinosis 2,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:1 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9015323519706726,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1424,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000391.4",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ser475Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299427.12",
"protein_coding": true,
"protein_id": "NP_000382.3",
"strand": false,
"transcript": "NM_000391.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1424,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000299427.12",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ser475Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000391.4",
"protein_coding": true,
"protein_id": "ENSP00000299427.6",
"strand": false,
"transcript": "ENST00000299427.12",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 320,
"aa_ref": "S",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3578,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 963,
"cds_start": 695,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000533371.6",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Ser232Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437066.1",
"strand": false,
"transcript": "ENST00000533371.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 562,
"aa_ref": "S",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3489,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1421,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000895469.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1421C>T",
"hgvs_p": "p.Ser474Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565528.1",
"strand": false,
"transcript": "ENST00000895469.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 537,
"aa_ref": "S",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3414,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1346,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000895471.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Ser449Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565530.1",
"strand": false,
"transcript": "ENST00000895471.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3399,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1331,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000895470.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565529.1",
"strand": false,
"transcript": "ENST00000895470.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "S",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1310,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000682424.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1310C>T",
"hgvs_p": "p.Ser437Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507321.1",
"strand": false,
"transcript": "ENST00000682424.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 500,
"aa_ref": "S",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1235,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000644218.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1235C>T",
"hgvs_p": "p.Ser412Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493574.1",
"strand": false,
"transcript": "ENST00000644218.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 470,
"aa_ref": "S",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000644810.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1145C>T",
"hgvs_p": "p.Ser382Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495895.1",
"strand": false,
"transcript": "ENST00000644810.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 399,
"aa_ref": "S",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1200,
"cds_start": 932,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643516.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.932C>T",
"hgvs_p": "p.Ser311Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496372.1",
"strand": false,
"transcript": "ENST00000643516.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 344,
"aa_ref": "S",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1035,
"cds_start": 767,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000931962.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Ser256Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602021.1",
"strand": false,
"transcript": "ENST00000931962.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 320,
"aa_ref": "S",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 963,
"cds_start": 695,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000642892.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Ser232Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494165.1",
"strand": false,
"transcript": "ENST00000642892.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 320,
"aa_ref": "S",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3464,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 963,
"cds_start": 695,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000645620.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Ser232Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493657.1",
"strand": false,
"transcript": "ENST00000645620.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 320,
"aa_ref": "S",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3414,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 963,
"cds_start": 695,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000647152.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Ser232Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495893.1",
"strand": false,
"transcript": "ENST00000647152.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "S",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 397,
"cds_end": null,
"cds_length": 636,
"cds_start": 368,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895468.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565527.1",
"strand": false,
"transcript": "ENST00000895468.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000524611.2",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "n.284C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000524611.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 757,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000524924.2",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "n.544C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000524924.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000532191.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285338",
"hgvs_c": "n.629C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000532191.2",
"transcript_support_level": 2
},
{
"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": 2007,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000643342.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "n.*219C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494324.1",
"strand": false,
"transcript": "ENST00000643342.1",
"transcript_support_level": null
},
{
"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": 3288,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
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