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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: 12-69574053-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=69574053&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FRS2",
"hgnc_id": 16971,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_006654.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 28,
"alphamissense_prediction": null,
"alphamissense_score": 0.1025,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11983686685562134,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6768,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001278356.2",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000549921.6",
"protein_coding": true,
"protein_id": "NP_001265285.1",
"strand": true,
"transcript": "NM_001278356.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6768,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000549921.6",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001278356.2",
"protein_coding": true,
"protein_id": "ENSP00000450048.1",
"strand": true,
"transcript": "ENST00000549921.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6600,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000550389.5",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447241.1",
"strand": true,
"transcript": "ENST00000550389.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6829,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001042555.3",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036020.1",
"strand": true,
"transcript": "NM_001042555.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6950,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001278351.2",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265280.1",
"strand": true,
"transcript": "NM_001278351.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6893,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001278353.2",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265282.1",
"strand": true,
"transcript": "NM_001278353.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6882,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001278354.2",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265283.1",
"strand": true,
"transcript": "NM_001278354.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6864,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001278355.2",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265284.1",
"strand": true,
"transcript": "NM_001278355.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6629,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001278357.2",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265286.1",
"strand": true,
"transcript": "NM_001278357.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6836,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_006654.5",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006645.3",
"strand": true,
"transcript": "NM_006654.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6550,
"cdna_start": 814,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000397997.6",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381083.2",
"strand": true,
"transcript": "ENST00000397997.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6914,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000872616.1",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542675.1",
"strand": true,
"transcript": "ENST00000872616.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 508,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6333,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000872617.1",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542676.1",
"strand": true,
"transcript": "ENST00000872617.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6247,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000872618.1",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542677.1",
"strand": true,
"transcript": "ENST00000872618.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 508,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000872619.1",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542678.1",
"strand": true,
"transcript": "ENST00000872619.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3151,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000872620.1",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542679.1",
"strand": true,
"transcript": "ENST00000872620.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5989,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000872621.1",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542680.1",
"strand": true,
"transcript": "ENST00000872621.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 508,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4521,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872622.1",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542681.1",
"strand": true,
"transcript": "ENST00000872622.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6661,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934305.1",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604364.1",
"strand": true,
"transcript": "ENST00000934305.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6259,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000934306.1",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604365.1",
"strand": true,
"transcript": "ENST00000934306.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4851,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1527,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000934307.1",
"gene_hgnc_id": 16971,
"gene_symbol": "FRS2",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"intron_rank": null,
"intron_rank_end": null,
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