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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: 9-137814468-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137814468&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PM1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EHMT1",
"hgnc_id": 24650,
"hgvs_c": "c.3218_3219delGCinsAT",
"hgvs_p": "p.Cys1073Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_024757.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1,PM1,PP3",
"acmg_score": 7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "C",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 3242,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3218,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024757.5",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3218_3219delGCinsAT",
"hgvs_p": "p.Cys1073Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "C",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 3242,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3218,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000460843.6",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3218_3219delGCinsAT",
"hgvs_p": "p.Cys1073Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "C",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4789,
"cdna_start": 3327,
"cds_end": null,
"cds_length": 3969,
"cds_start": 3290,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896765.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3290_3291delGCinsAT",
"hgvs_p": "p.Cys1097Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1291,
"aa_ref": "C",
"aa_start": 1066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5074,
"cdna_start": 3221,
"cds_end": null,
"cds_length": 3876,
"cds_start": 3197,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354263.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3197_3198delGCinsAT",
"hgvs_p": "p.Cys1066Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "C",
"aa_start": 1065,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5077,
"cdna_start": 3227,
"cds_end": null,
"cds_length": 3873,
"cds_start": 3194,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896763.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3194_3195delGCinsAT",
"hgvs_p": "p.Cys1065Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1276,
"aa_ref": "C",
"aa_start": 1040,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5029,
"cdna_start": 3143,
"cds_end": null,
"cds_length": 3831,
"cds_start": 3119,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918862.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3119_3120delGCinsAT",
"hgvs_p": "p.Cys1040Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1267,
"aa_ref": "C",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 3223,
"cds_end": null,
"cds_length": 3804,
"cds_start": 3125,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637161.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3125_3126delGCinsAT",
"hgvs_p": "p.Cys1042Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "C",
"aa_start": 1040,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5021,
"cdna_start": 3171,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3119,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896761.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3119_3120delGCinsAT",
"hgvs_p": "p.Cys1040Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1264,
"aa_ref": "C",
"aa_start": 1039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5003,
"cdna_start": 3153,
"cds_end": null,
"cds_length": 3795,
"cds_start": 3116,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896762.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3116_3117delGCinsAT",
"hgvs_p": "p.Cys1039Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1257,
"aa_ref": "C",
"aa_start": 1032,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4566,
"cdna_start": 3108,
"cds_end": null,
"cds_length": 3774,
"cds_start": 3095,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896766.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3095_3096delGCinsAT",
"hgvs_p": "p.Cys1032Tyr",
"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": "LY",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "LH",
"aa_start": 1032,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4934,
"cdna_start": 3100,
"cds_end": null,
"cds_length": 3756,
"cds_start": 3096,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918863.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3096_3097delGCinsAT",
"hgvs_p": "p.His1033Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "C",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4891,
"cdna_start": 3038,
"cds_end": null,
"cds_length": 3675,
"cds_start": 2996,
"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918861.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2996_2997delGCinsAT",
"hgvs_p": "p.Cys999Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588920.1",
"strand": true,
"transcript": "ENST00000918861.1",
"transcript_support_level": null
},
{
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"aa_length": 1053,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2483,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896764.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.2483_2484delGCinsAT",
"hgvs_p": "p.Cys828Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1301,
"aa_ref": "C",
"aa_start": 1076,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5181,
"cdna_start": 3328,
"cds_end": null,
"cds_length": 3906,
"cds_start": 3227,
"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011519021.4",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3227_3228delGCinsAT",
"hgvs_p": "p.Cys1076Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517323.1",
"strand": true,
"transcript": "XM_011519021.4",
"transcript_support_level": null
},
{
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"aa_length": 1300,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5565,
"cdna_start": 3712,
"cds_end": null,
"cds_length": 3903,
"cds_start": 3224,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011519022.4",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3224_3225delGCinsAT",
"hgvs_p": "p.Cys1075Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "C",
"aa_start": 1070,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5198,
"cdna_start": 3345,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3209,
"consequences": [
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],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047423872.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3209_3210delGCinsAT",
"hgvs_p": "p.Cys1070Tyr",
"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": "Y",
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"aa_length": 1294,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 3307,
"cds_end": null,
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"consequences": [
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],
"exon_count": 27,
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"feature": "XM_011519023.4",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3206_3207delGCinsAT",
"hgvs_p": "p.Cys1069Tyr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011517325.1",
"strand": true,
"transcript": "XM_011519023.4",
"transcript_support_level": null
},
{
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"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5544,
"cdna_start": 3691,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3203,
"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017015134.2",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3203_3204delGCinsAT",
"hgvs_p": "p.Cys1068Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870623.1",
"strand": true,
"transcript": "XM_017015134.2",
"transcript_support_level": null
},
{
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"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 11465,
"cds_end": null,
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"cds_start": 3188,
"consequences": [
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],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047423873.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3188_3189delGCinsAT",
"hgvs_p": "p.Cys1063Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279829.1",
"strand": true,
"transcript": "XM_047423873.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1275,
"aa_ref": "C",
"aa_start": 1050,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5103,
"cdna_start": 3250,
"cds_end": null,
"cds_length": 3828,
"cds_start": 3149,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047423874.1",
"gene_hgnc_id": 24650,
"gene_symbol": "EHMT1",
"hgvs_c": "c.3149_3150delGCinsAT",
"hgvs_p": "p.Cys1050Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279830.1",
"strand": true,
"transcript": "XM_047423874.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1269,
"aa_ref": "C",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5120,
"cdna_start": 3267,
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