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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: 6-52492311-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52492311&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EFHC1",
"hgnc_id": 16406,
"hgvs_c": "c.1893C>T",
"hgvs_p": "p.Tyr631Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_018100.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 2257,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "6",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " 1, juvenile, susceptibility to,Absence seizure,Myoclonic epilepsy,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Y",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6849,
"cdna_start": 1962,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1893,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_018100.4",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1893C>T",
"hgvs_p": "p.Tyr631Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Y",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6849,
"cdna_start": 1962,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1893,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000371068.11",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1893C>T",
"hgvs_p": "p.Tyr631Tyr",
"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": 10,
"exon_rank_end": null,
"feature": "ENST00000637340.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "n.3818C>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": "Y",
"aa_end": null,
"aa_length": 630,
"aa_ref": "Y",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1863,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000636702.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Tyr621Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 621,
"aa_ref": "Y",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6906,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1836,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001172420.2",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1836C>T",
"hgvs_p": "p.Tyr612Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 621,
"aa_ref": "Y",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5308,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1836,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000538167.2",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1836C>T",
"hgvs_p": "p.Tyr612Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 621,
"aa_ref": "Y",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": 2325,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1836,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000636489.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1836C>T",
"hgvs_p": "p.Tyr612Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 621,
"aa_ref": "Y",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1836,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000636954.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1836C>T",
"hgvs_p": "p.Tyr612Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 593,
"aa_ref": "Y",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": 1891,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1752,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000953671.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1752C>T",
"hgvs_p": "p.Tyr584Tyr",
"intron_rank": null,
"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": "Y",
"aa_end": null,
"aa_length": 589,
"aa_ref": "Y",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 1828,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1740,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000914231.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1740C>T",
"hgvs_p": "p.Tyr580Tyr",
"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
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 568,
"aa_ref": "Y",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3616,
"cdna_start": 1774,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1677,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000914230.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1677C>T",
"hgvs_p": "p.Tyr559Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 544,
"aa_ref": "Y",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1605,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000636379.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1605C>T",
"hgvs_p": "p.Tyr535Tyr",
"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": "Y",
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"aa_length": 532,
"aa_ref": "Y",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": 1942,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1569,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000635760.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1569C>T",
"hgvs_p": "p.Tyr523Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489765.1",
"strand": true,
"transcript": "ENST00000635760.1",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 518,
"aa_ref": "Y",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1527,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000953672.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1527C>T",
"hgvs_p": "p.Tyr509Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623731.1",
"strand": true,
"transcript": "ENST00000953672.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 641,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": null,
"cds_end": null,
"cds_length": 1926,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637353.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1851+1961C>T",
"hgvs_p": null,
"intron_rank": 10,
"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": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637089.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1851+1961C>T",
"hgvs_p": null,
"intron_rank": 10,
"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": null,
"aa_end": null,
"aa_length": 517,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": null,
"cds_end": null,
"cds_length": 1554,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636343.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1515+1961C>T",
"hgvs_p": null,
"intron_rank": 8,
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000480623.6",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "n.*449C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434498.2",
"strand": true,
"transcript": "ENST00000480623.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 387,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000481466.2",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "n.278C>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": "ENST00000481466.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000635866.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "n.*1762C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489866.1",
"strand": true,
"transcript": "ENST00000635866.1",
"transcript_support_level": 5
},
{
"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": 3509,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000635911.1",
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