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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: 6-98899449-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=98899449&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FBXL4",
"hgnc_id": 13601,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 2,
"transcript": "NM_012160.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_score": 2,
"allele_count_reference_population": 31,
"alphamissense_prediction": null,
"alphamissense_score": 0.0891,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Mitochondrial DNA depletion syndrome 13,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3071248233318329,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8058,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001278716.2",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369244.7",
"protein_coding": true,
"protein_id": "NP_001265645.1",
"strand": false,
"transcript": "NM_001278716.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8058,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000369244.7",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001278716.2",
"protein_coding": true,
"protein_id": "ENSP00000358247.1",
"strand": false,
"transcript": "ENST00000369244.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2810,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000229971.2",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000229971.1",
"strand": false,
"transcript": "ENST00000229971.2",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 628,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000892543.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1157G>A",
"hgvs_p": "p.Arg386His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562602.1",
"strand": false,
"transcript": "ENST00000892543.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 628,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 1480,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000945102.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1157G>A",
"hgvs_p": "p.Arg386His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615161.1",
"strand": false,
"transcript": "ENST00000945102.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7940,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_012160.5",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036292.2",
"strand": false,
"transcript": "NM_012160.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892540.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562599.1",
"strand": false,
"transcript": "ENST00000892540.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 2269,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892542.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562601.1",
"strand": false,
"transcript": "ENST00000892542.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 1815,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000892550.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562609.1",
"strand": false,
"transcript": "ENST00000892550.1",
"transcript_support_level": null
},
{
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"aa_length": 621,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000892554.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562613.1",
"strand": false,
"transcript": "ENST00000892554.1",
"transcript_support_level": null
},
{
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"aa_length": 621,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2405,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892560.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562619.1",
"strand": false,
"transcript": "ENST00000892560.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1650,
"cds_end": null,
"cds_length": 1866,
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"consequences": [
"missense_variant"
],
"exon_count": 11,
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"feature": "ENST00000945098.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615157.1",
"strand": false,
"transcript": "ENST00000945098.1",
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},
{
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 9,
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"feature": "ENST00000892552.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562611.1",
"strand": false,
"transcript": "ENST00000892552.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3038,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000892539.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000562598.1",
"strand": false,
"transcript": "ENST00000892539.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1518,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892541.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562600.1",
"strand": false,
"transcript": "ENST00000892541.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892548.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562607.1",
"strand": false,
"transcript": "ENST00000892548.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000935939.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000605998.1",
"strand": false,
"transcript": "ENST00000935939.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000945100.1",
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"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615159.1",
"strand": false,
"transcript": "ENST00000945100.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
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"feature": "ENST00000945101.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615160.1",
"strand": false,
"transcript": "ENST00000945101.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1596,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892544.1",
"gene_hgnc_id": 13601,
"gene_symbol": "FBXL4",
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562603.1",
"strand": false,
"transcript": "ENST00000892544.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 531,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1596,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945099.1",
"gene_hgnc_id": 13601,
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