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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: 9-92032476-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92032476&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPTLC1",
"hgnc_id": 11277,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001281303.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 798,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0729,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "9",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " hereditary sensory and autonomic, type 1A,Charcot-Marie-Tooth disease,Hereditary sensory and autonomic neuropathy type 1,Neuropathy,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00811779499053955,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 473,
"aa_ref": "V",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_006415.4",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Val471Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262554.7",
"protein_coding": true,
"protein_id": "NP_006406.1",
"strand": false,
"transcript": "NM_006415.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 473,
"aa_ref": "V",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000262554.7",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Val471Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006415.4",
"protein_coding": true,
"protein_id": "ENSP00000262554.2",
"strand": false,
"transcript": "ENST00000262554.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 543,
"aa_ref": "V",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2972,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1621,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000953500.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Val541Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623559.1",
"strand": false,
"transcript": "ENST00000953500.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 534,
"aa_ref": "V",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1970,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1594,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000884978.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1594G>A",
"hgvs_p": "p.Val532Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555037.1",
"strand": false,
"transcript": "ENST00000884978.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 513,
"aa_ref": "R",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1379,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001281303.2",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268232.1",
"strand": false,
"transcript": "NM_001281303.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 493,
"aa_ref": "V",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000687972.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509208.1",
"strand": false,
"transcript": "ENST00000687972.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 488,
"aa_ref": "V",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1456,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000953498.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Val486Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623557.1",
"strand": false,
"transcript": "ENST00000953498.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 486,
"aa_ref": "V",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1450,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000953503.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623562.1",
"strand": false,
"transcript": "ENST00000953503.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 482,
"aa_ref": "V",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000884974.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1438G>A",
"hgvs_p": "p.Val480Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555033.1",
"strand": false,
"transcript": "ENST00000884974.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 481,
"aa_ref": "V",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2772,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1435,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000884977.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1435G>A",
"hgvs_p": "p.Val479Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555036.1",
"strand": false,
"transcript": "ENST00000884977.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 480,
"aa_ref": "V",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1432,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000953501.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Val478Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623560.1",
"strand": false,
"transcript": "ENST00000953501.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 471,
"aa_ref": "V",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1405,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000913243.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Val469Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583302.1",
"strand": false,
"transcript": "ENST00000913243.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 469,
"aa_ref": "V",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000913242.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Val467Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583301.1",
"strand": false,
"transcript": "ENST00000913242.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 467,
"aa_ref": "V",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1393,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000953502.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Val465Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623561.1",
"strand": false,
"transcript": "ENST00000953502.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2714,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000884973.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Val441Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555032.1",
"strand": false,
"transcript": "ENST00000884973.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 437,
"aa_ref": "V",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2658,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000884976.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1303G>A",
"hgvs_p": "p.Val435Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555035.1",
"strand": false,
"transcript": "ENST00000884976.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 430,
"aa_ref": "V",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1282,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000913245.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Val428Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583304.1",
"strand": false,
"transcript": "ENST00000913245.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 409,
"aa_ref": "V",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1219,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000953499.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Val407Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623558.1",
"strand": false,
"transcript": "ENST00000953499.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1122,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000884975.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Val371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555034.1",
"strand": false,
"transcript": "ENST00000884975.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 351,
"aa_ref": "V",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1056,
"cds_start": 1045,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001368272.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1045G>A",
"hgvs_p": "p.Val349Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355201.1",
"strand": false,
"transcript": "NM_001368272.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 318,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 957,
"cds_start": 946,
"consequences": [
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}