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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: 9-92047198-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92047198&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPTLC1",
"hgnc_id": 11277,
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ala352Gly",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001281303.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0803,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5074817538261414,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 473,
"aa_ref": "A",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_006415.4",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ala352Gly",
"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": "G",
"aa_end": null,
"aa_length": 473,
"aa_ref": "A",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000262554.7",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ala352Gly",
"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": "G",
"aa_end": null,
"aa_length": 543,
"aa_ref": "A",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2972,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000953500.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1265C>G",
"hgvs_p": "p.Ala422Gly",
"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": "G",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1970,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000884978.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ala352Gly",
"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": "G",
"aa_end": null,
"aa_length": 513,
"aa_ref": "A",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001281303.2",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ala352Gly",
"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": "G",
"aa_end": null,
"aa_length": 504,
"aa_ref": "A",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000686600.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ala352Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509268.1",
"strand": false,
"transcript": "ENST00000686600.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 493,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1115,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000687972.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"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": "G",
"aa_end": null,
"aa_length": 488,
"aa_ref": "A",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000953498.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ala352Gly",
"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": "G",
"aa_end": null,
"aa_length": 486,
"aa_ref": "A",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1094,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000953503.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1094C>G",
"hgvs_p": "p.Ala365Gly",
"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": "G",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000884974.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ala352Gly",
"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": "G",
"aa_end": null,
"aa_length": 481,
"aa_ref": "A",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2772,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1079,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000884977.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1079C>G",
"hgvs_p": "p.Ala360Gly",
"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": "G",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000953501.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Ala359Gly",
"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": "G",
"aa_end": null,
"aa_length": 471,
"aa_ref": "A",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1049,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000913243.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1049C>G",
"hgvs_p": "p.Ala350Gly",
"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": "G",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000913242.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ala352Gly",
"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": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000953502.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1037C>G",
"hgvs_p": "p.Ala346Gly",
"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": "G",
"aa_end": null,
"aa_length": 443,
"aa_ref": "A",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2714,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1332,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000884973.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Ala322Gly",
"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": "G",
"aa_end": null,
"aa_length": 437,
"aa_ref": "A",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2658,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1314,
"cds_start": 947,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000884976.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.947C>G",
"hgvs_p": "p.Ala316Gly",
"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": "G",
"aa_end": null,
"aa_length": 409,
"aa_ref": "A",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000953499.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ala352Gly",
"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": "G",
"aa_end": null,
"aa_length": 373,
"aa_ref": "A",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": 791,
"cds_end": null,
"cds_length": 1122,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000884975.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Ala252Gly",
"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": "G",
"aa_end": null,
"aa_length": 351,
"aa_ref": "A",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1056,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001368272.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
"hgvs_c": "c.689C>G",
"hgvs_p": "p.Ala230Gly",
"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": "G",
"aa_end": null,
"aa_length": 318,
"aa_ref": "A",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 957,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001368273.1",
"gene_hgnc_id": 11277,
"gene_symbol": "SPTLC1",
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