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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: 10-87062668-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87062668&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "GLUD1",
"hgnc_id": 4335,
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Thr303Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_005271.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 599,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"chr": "10",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Hyperinsulinism-hyperammonemia syndrome,Inborn genetic diseases,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7099999785423279,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 558,
"aa_ref": "T",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1677,
"cds_start": 909,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_005271.5",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Thr303Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000277865.5",
"protein_coding": true,
"protein_id": "NP_005262.1",
"strand": false,
"transcript": "NM_005271.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 558,
"aa_ref": "T",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1677,
"cds_start": 909,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000277865.5",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Thr303Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005271.5",
"protein_coding": true,
"protein_id": "ENSP00000277865.4",
"strand": false,
"transcript": "ENST00000277865.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 574,
"aa_ref": "T",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1725,
"cds_start": 957,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915201.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.957A>C",
"hgvs_p": "p.Thr319Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585260.1",
"strand": false,
"transcript": "ENST00000915201.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 571,
"aa_ref": "T",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 1716,
"cds_start": 909,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000898383.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Thr303Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568442.1",
"strand": false,
"transcript": "ENST00000898383.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 549,
"aa_ref": "T",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3020,
"cdna_start": 987,
"cds_end": null,
"cds_length": 1650,
"cds_start": 882,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944406.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.882A>C",
"hgvs_p": "p.Thr294Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614465.1",
"strand": false,
"transcript": "ENST00000944406.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 548,
"aa_ref": "T",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1647,
"cds_start": 909,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000898388.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Thr303Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568447.1",
"strand": false,
"transcript": "ENST00000898388.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 537,
"aa_ref": "T",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1614,
"cds_start": 909,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000898382.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Thr303Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568441.1",
"strand": false,
"transcript": "ENST00000898382.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 532,
"aa_ref": "T",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1599,
"cds_start": 909,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000684338.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Thr303Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507457.1",
"strand": false,
"transcript": "ENST00000684338.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 531,
"aa_ref": "T",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1596,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898387.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.828A>C",
"hgvs_p": "p.Thr276Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568446.1",
"strand": false,
"transcript": "ENST00000898387.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 518,
"aa_ref": "T",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2945,
"cdna_start": 912,
"cds_end": null,
"cds_length": 1557,
"cds_start": 789,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915200.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.789A>C",
"hgvs_p": "p.Thr263Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585259.1",
"strand": false,
"transcript": "ENST00000915200.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 512,
"aa_ref": "T",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1539,
"cds_start": 909,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000898385.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Thr303Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568444.1",
"strand": false,
"transcript": "ENST00000898385.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 512,
"aa_ref": "T",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2942,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1539,
"cds_start": 909,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915199.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Thr303Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585258.1",
"strand": false,
"transcript": "ENST00000915199.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 491,
"aa_ref": "T",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1476,
"cds_start": 708,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000898384.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.708A>C",
"hgvs_p": "p.Thr236Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568443.1",
"strand": false,
"transcript": "ENST00000898384.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 466,
"aa_ref": "T",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2623,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1401,
"cds_start": 909,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000684201.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Thr303Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507887.1",
"strand": false,
"transcript": "ENST00000684201.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 445,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2671,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1338,
"cds_start": 909,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944407.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.909A>C",
"hgvs_p": "p.Thr303Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614466.1",
"strand": false,
"transcript": "ENST00000944407.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 425,
"aa_ref": "T",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2936,
"cdna_start": 619,
"cds_end": null,
"cds_length": 1278,
"cds_start": 510,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001318900.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.510A>C",
"hgvs_p": "p.Thr170Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305829.1",
"strand": false,
"transcript": "NM_001318900.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 399,
"aa_ref": "T",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 782,
"cds_end": null,
"cds_length": 1200,
"cds_start": 708,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000898392.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.708A>C",
"hgvs_p": "p.Thr236Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568451.1",
"strand": false,
"transcript": "ENST00000898392.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3289,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1176,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001318901.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.408A>C",
"hgvs_p": "p.Thr136Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305830.1",
"strand": false,
"transcript": "NM_001318901.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 391,
"aa_ref": "T",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 899,
"cds_end": null,
"cds_length": 1176,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001318902.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.408A>C",
"hgvs_p": "p.Thr136Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305831.1",
"strand": false,
"transcript": "NM_001318902.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 391,
"aa_ref": "T",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1176,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001318904.2",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.408A>C",
"hgvs_p": "p.Thr136Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305833.1",
"strand": false,
"transcript": "NM_001318904.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 391,
"aa_ref": "T",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": 1336,
"cds_end": null,
"cds_length": 1176,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001318905.2",
"gene_hgnc_id": 4335,
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