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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: 6-52490238-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52490238&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EFHC1",
"hgnc_id": 16406,
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Arg580His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_018100.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.0701,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "6",
"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": 0.06440913677215576,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6849,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1739,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_018100.4",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Arg580His",
"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": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6849,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1739,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000371068.11",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Arg580His",
"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": 9,
"exon_rank_end": null,
"feature": "ENST00000637340.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "n.3664G>A",
"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": "H",
"aa_end": null,
"aa_length": 641,
"aa_ref": "R",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1739,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000637353.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Arg580His",
"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": "H",
"aa_end": null,
"aa_length": 632,
"aa_ref": "R",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1739,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000635996.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Arg580His",
"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": "H",
"aa_end": null,
"aa_length": 631,
"aa_ref": "R",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 1861,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1739,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000637089.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Arg580His",
"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": "H",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1709,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000636702.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1709G>A",
"hgvs_p": "p.Arg570His",
"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": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6906,
"cdna_start": 1865,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001172420.2",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561His",
"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": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5308,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000538167.2",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561His",
"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": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": 2171,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000636489.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561His",
"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": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 1866,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000636954.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561His",
"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": "H",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000953671.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"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": "H",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000914231.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Arg529His",
"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": "H",
"aa_end": null,
"aa_length": 568,
"aa_ref": "R",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3616,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1523,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000914230.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1523G>A",
"hgvs_p": "p.Arg508His",
"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": "H",
"aa_end": null,
"aa_length": 544,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636379.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Arg484His",
"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": "H",
"aa_end": null,
"aa_length": 532,
"aa_ref": "R",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": 1788,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000635760.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472His",
"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": "H",
"aa_end": null,
"aa_length": 518,
"aa_ref": "R",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000953672.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1373G>A",
"hgvs_p": "p.Arg458His",
"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": "H",
"aa_end": null,
"aa_length": 517,
"aa_ref": "R",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1403,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000636343.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Arg468His",
"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": 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": 12,
"exon_rank_end": null,
"feature": "ENST00000480623.6",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "n.*295G>A",
"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": 2,
"exon_rank_end": null,
"feature": "ENST00000481466.2",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "n.124G>A",
"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": 11,
"exon_rank_end": null,
"feature": "ENST00000635866.1",
"gene_hgnc_id": 16406,
"gene_symbol": "EFHC1",
"hgvs_c": "n.*1608G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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