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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: 9-137752337-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137752337&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EHMT1",
"hgnc_id": 24650,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Gly393Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_024757.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1363,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"chr": "9",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Kleefstra syndrome 1",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1676943600177765,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "G",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 3897,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_024757.5",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Gly393Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000460843.6",
"protein_coding": true,
"protein_id": "NP_079033.4",
"strand": true,
"transcript": "NM_024757.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "G",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 3897,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000460843.6",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Gly393Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024757.5",
"protein_coding": true,
"protein_id": "ENSP00000417980.1",
"strand": true,
"transcript": "ENST00000460843.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 808,
"aa_ref": "G",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 2427,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000462484.5",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Gly393Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417328.1",
"strand": true,
"transcript": "ENST00000462484.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "G",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4789,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 3969,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000896765.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Gly417Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566824.1",
"strand": true,
"transcript": "ENST00000896765.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1291,
"aa_ref": "G",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5074,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 3876,
"cds_start": 1156,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001354263.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Gly386Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341192.1",
"strand": true,
"transcript": "NM_001354263.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "G",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5077,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 3873,
"cds_start": 1153,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896763.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1153G>A",
"hgvs_p": "p.Gly385Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566822.1",
"strand": true,
"transcript": "ENST00000896763.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1267,
"aa_ref": "G",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 3804,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637161.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490328.1",
"strand": true,
"transcript": "ENST00000637161.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1257,
"aa_ref": "G",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4566,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 3774,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896766.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Gly393Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566825.1",
"strand": true,
"transcript": "ENST00000896766.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "G",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 3162,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896764.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Gly393Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566823.1",
"strand": true,
"transcript": "ENST00000896764.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 980,
"aa_ref": "G",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 2945,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000636027.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489961.1",
"strand": true,
"transcript": "ENST00000636027.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 825,
"aa_ref": "G",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4585,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001354259.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341188.1",
"strand": true,
"transcript": "NM_001354259.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 808,
"aa_ref": "G",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 2427,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001145527.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Gly393Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138999.1",
"strand": true,
"transcript": "NM_001145527.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 556,
"aa_ref": "G",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001354611.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Gly393Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341540.1",
"strand": true,
"transcript": "NM_001354611.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 556,
"aa_ref": "G",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3600,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000629335.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Gly393Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490056.1",
"strand": true,
"transcript": "ENST00000629335.2",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "G",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000637977.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Gly374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490714.1",
"strand": true,
"transcript": "ENST00000637977.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 525,
"aa_ref": "G",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001354612.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341541.1",
"strand": true,
"transcript": "NM_001354612.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 430,
"aa_ref": "G",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1297,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 1295,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000626066.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Gly360Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485900.1",
"strand": true,
"transcript": "ENST00000626066.2",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "G",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1259,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1183,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000640639.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Gly116Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491823.1",
"strand": true,
"transcript": "ENST00000640639.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1301,
"aa_ref": "G",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5181,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 3906,
"cds_start": 1186,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011519021.4",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Gly396Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517323.1",
"strand": true,
"transcript": "XM_011519021.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "G",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5565,
"cdna_start": 1671,
"cds_end": null,
"cds_length": 3903,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011519022.4",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Gly395Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517324.1",
"strand": true,
"transcript": "XM_011519022.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "G",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5198,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 3888,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047423872.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
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