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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: 9-137834397-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137834397&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EHMT1",
"hgnc_id": 24650,
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.Arg1197Trp",
"inheritance_mode": "AD",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_024757.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9668,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.51,
"chr": "9",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Kleefstra syndrome 1",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9872710108757019,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "R",
"aa_start": 1197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 3613,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3589,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_024757.5",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.Arg1197Trp",
"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": "W",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "R",
"aa_start": 1197,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 3613,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3589,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000460843.6",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.Arg1197Trp",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000475564.5",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "n.1313C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000475564.5",
"transcript_support_level": 1
},
{
"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": 2038,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000494249.5",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "n.942C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000494249.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "R",
"aa_start": 1221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4789,
"cdna_start": 3698,
"cds_end": null,
"cds_length": 3969,
"cds_start": 3661,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000896765.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3661C>T",
"hgvs_p": "p.Arg1221Trp",
"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": "W",
"aa_end": null,
"aa_length": 1291,
"aa_ref": "R",
"aa_start": 1190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5074,
"cdna_start": 3592,
"cds_end": null,
"cds_length": 3876,
"cds_start": 3568,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001354263.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3568C>T",
"hgvs_p": "p.Arg1190Trp",
"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": "W",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "R",
"aa_start": 1189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5077,
"cdna_start": 3598,
"cds_end": null,
"cds_length": 3873,
"cds_start": 3565,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896763.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3565C>T",
"hgvs_p": "p.Arg1189Trp",
"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": "W",
"aa_end": null,
"aa_length": 1276,
"aa_ref": "R",
"aa_start": 1175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5029,
"cdna_start": 3547,
"cds_end": null,
"cds_length": 3831,
"cds_start": 3523,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000918862.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3523C>T",
"hgvs_p": "p.Arg1175Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588921.1",
"strand": true,
"transcript": "ENST00000918862.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1267,
"aa_ref": "R",
"aa_start": 1166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 3594,
"cds_end": null,
"cds_length": 3804,
"cds_start": 3496,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000637161.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3496C>T",
"hgvs_p": "p.Arg1166Trp",
"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": "W",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5021,
"cdna_start": 3542,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3490,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000896761.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3490C>T",
"hgvs_p": "p.Arg1164Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566820.1",
"strand": true,
"transcript": "ENST00000896761.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1264,
"aa_ref": "R",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5003,
"cdna_start": 3524,
"cds_end": null,
"cds_length": 3795,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000896762.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3487C>T",
"hgvs_p": "p.Arg1163Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566821.1",
"strand": true,
"transcript": "ENST00000896762.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 1257,
"aa_ref": "R",
"aa_start": 1156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4566,
"cdna_start": 3479,
"cds_end": null,
"cds_length": 3774,
"cds_start": 3466,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000896766.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3466C>T",
"hgvs_p": "p.Arg1156Trp",
"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": "W",
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"aa_length": 1251,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4934,
"cdna_start": 3452,
"cds_end": null,
"cds_length": 3756,
"cds_start": 3448,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000918863.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3448C>T",
"hgvs_p": "p.Arg1150Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588922.1",
"strand": true,
"transcript": "ENST00000918863.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "R",
"aa_start": 1123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4891,
"cdna_start": 3409,
"cds_end": null,
"cds_length": 3675,
"cds_start": 3367,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000918861.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3367C>T",
"hgvs_p": "p.Arg1123Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588920.1",
"strand": true,
"transcript": "ENST00000918861.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 2887,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2854,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000896764.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2854C>T",
"hgvs_p": "p.Arg952Trp",
"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": "W",
"aa_end": null,
"aa_length": 1301,
"aa_ref": "R",
"aa_start": 1200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5181,
"cdna_start": 3699,
"cds_end": null,
"cds_length": 3906,
"cds_start": 3598,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011519021.4",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3598C>T",
"hgvs_p": "p.Arg1200Trp",
"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": "W",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "R",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5565,
"cdna_start": 4083,
"cds_end": null,
"cds_length": 3903,
"cds_start": 3595,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011519022.4",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3595C>T",
"hgvs_p": "p.Arg1199Trp",
"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": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5198,
"cdna_start": 3716,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3580,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047423872.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3580C>T",
"hgvs_p": "p.Arg1194Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279828.1",
"strand": true,
"transcript": "XM_047423872.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5160,
"cdna_start": 3678,
"cds_end": null,
"cds_length": 3885,
"cds_start": 3577,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011519023.4",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3577C>T",
"hgvs_p": "p.Arg1193Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517325.1",
"strand": true,
"transcript": "XM_011519023.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "R",
"aa_start": 1192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5544,
"cdna_start": 4062,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3574,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_017015134.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3574C>T",
"hgvs_p": "p.Arg1192Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870623.1",
"strand": true,
"transcript": "XM_017015134.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "R",
"aa_start": 1187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13318,
"cdna_start": 11836,
"cds_end": null,
"cds_length": 3867,
"cds_start": 3559,
"consequences": [
"missense_variant"
],
"exon_count": 28,
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]
}