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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: 6-52469342-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52469342&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EFHC1",
"hgnc_id": 16406,
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Pro383Ser",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_018100.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_score": -3,
"allele_count_reference_population": 55,
"alphamissense_prediction": null,
"alphamissense_score": 0.1851,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.27,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 1, juvenile, susceptibility to,Myoclonic epilepsy,Typical absence seizure",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8189338445663452,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 640,
"aa_ref": "P",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6849,
"cdna_start": 1216,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_018100.4",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Pro383Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371068.11",
"protein_coding": true,
"protein_id": "NP_060570.2",
"strand": true,
"transcript": "NM_018100.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 640,
"aa_ref": "P",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6849,
"cdna_start": 1216,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371068.11",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Pro383Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018100.4",
"protein_coding": true,
"protein_id": "ENSP00000360107.4",
"strand": true,
"transcript": "ENST00000371068.11",
"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": 4004,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000637340.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "n.3072C>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": "ENST00000637340.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 641,
"aa_ref": "P",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637353.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Pro383Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490441.1",
"strand": true,
"transcript": "ENST00000637353.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "P",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000635996.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Pro383Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490256.1",
"strand": true,
"transcript": "ENST00000635996.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 631,
"aa_ref": "P",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637089.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Pro383Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489854.1",
"strand": true,
"transcript": "ENST00000637089.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 630,
"aa_ref": "P",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000636702.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Pro373Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489623.1",
"strand": true,
"transcript": "ENST00000636702.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 621,
"aa_ref": "P",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6906,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001172420.2",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Pro364Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165891.1",
"strand": true,
"transcript": "NM_001172420.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 621,
"aa_ref": "P",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5308,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000538167.2",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Pro364Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444521.1",
"strand": true,
"transcript": "ENST00000538167.2",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 621,
"aa_ref": "P",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000636489.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Pro364Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489998.1",
"strand": true,
"transcript": "ENST00000636489.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_length": 621,
"aa_ref": "P",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000636954.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Pro364Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489966.1",
"strand": true,
"transcript": "ENST00000636954.1",
"transcript_support_level": 2
},
{
"aa_alt": "S",
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"aa_length": 589,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1770,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000914231.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Pro332Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584290.1",
"strand": true,
"transcript": "ENST00000914231.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1216,
"cds_end": null,
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"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000636107.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Pro383Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489680.1",
"strand": true,
"transcript": "ENST00000636107.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_length": 568,
"aa_ref": "P",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3616,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1707,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000914230.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Pro311Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584289.1",
"strand": true,
"transcript": "ENST00000914230.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 552,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1659,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637263.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Pro383Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489700.1",
"strand": true,
"transcript": "ENST00000637263.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 891,
"cds_end": null,
"cds_length": 1635,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000636379.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.859C>T",
"hgvs_p": "p.Pro287Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490622.1",
"strand": true,
"transcript": "ENST00000636379.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 532,
"aa_ref": "P",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 1599,
"cds_start": 823,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000635760.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Pro275Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489765.1",
"strand": true,
"transcript": "ENST00000635760.1",
"transcript_support_level": 5
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 813,
"cds_end": null,
"cds_length": 1554,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000636343.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Pro271Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490193.1",
"strand": true,
"transcript": "ENST00000636343.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1425,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000635984.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Pro275Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489921.1",
"strand": true,
"transcript": "ENST00000635984.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 593,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": null,
"cds_end": null,
"cds_length": 1782,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953671.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1137+4227C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623730.1",
"strand": true,
"transcript": "ENST00000953671.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 518,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": null,
"cds_end": null,
"cds_length": 1557,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953672.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.913-9695C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
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