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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: 1-150077706-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150077706&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "VPS45",
"hgnc_id": 14579,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_007259.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 328,
"alphamissense_prediction": null,
"alphamissense_score": 0.5278,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Congenital neutropenia-myelofibrosis-nephromegaly syndrome,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8136328458786011,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 570,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1713,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_007259.5",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644510.2",
"protein_coding": true,
"protein_id": "NP_009190.2",
"strand": true,
"transcript": "NM_007259.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 570,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1713,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644510.2",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007259.5",
"protein_coding": true,
"protein_id": "ENSP00000495563.1",
"strand": true,
"transcript": "ENST00000644510.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1956,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698584.1",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513813.1",
"strand": true,
"transcript": "ENST00000698584.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 643,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1932,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644526.2",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494363.1",
"strand": true,
"transcript": "ENST00000644526.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 595,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1788,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698580.1",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513809.1",
"strand": true,
"transcript": "ENST00000698580.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 595,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1788,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900003.1",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570062.1",
"strand": true,
"transcript": "ENST00000900003.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 582,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1749,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698582.1",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513811.1",
"strand": true,
"transcript": "ENST00000698582.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 582,
"aa_ref": "R",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 772,
"cds_end": null,
"cds_length": 1749,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698587.1",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513816.1",
"strand": true,
"transcript": "ENST00000698587.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 582,
"aa_ref": "R",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1749,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698598.1",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513825.1",
"strand": true,
"transcript": "ENST00000698598.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1710,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698590.1",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Arg204His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513818.1",
"strand": true,
"transcript": "ENST00000698590.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 548,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2022,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1647,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698581.1",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513810.1",
"strand": true,
"transcript": "ENST00000698581.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 547,
"aa_ref": "R",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1644,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000698532.1",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Arg182His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513778.1",
"strand": true,
"transcript": "ENST00000698532.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 546,
"aa_ref": "R",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1641,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000419023.4",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Arg181His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400143.3",
"strand": true,
"transcript": "ENST00000419023.4",
"transcript_support_level": 3
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 542,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3093,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1629,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698578.1",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513807.1",
"strand": true,
"transcript": "ENST00000698578.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2265,
"cdna_start": 539,
"cds_end": null,
"cds_length": 1617,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001279353.2",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001266282.1",
"strand": true,
"transcript": "NM_001279353.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 539,
"cds_end": null,
"cds_length": 1617,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000369128.9",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358124.5",
"strand": true,
"transcript": "ENST00000369128.9",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 574,
"cds_end": null,
"cds_length": 1617,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698597.1",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513824.1",
"strand": true,
"transcript": "ENST00000698597.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 534,
"aa_ref": "R",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1605,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001279354.2",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001266283.1",
"strand": true,
"transcript": "NM_001279354.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 534,
"aa_ref": "R",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2475,
"cdna_start": 849,
"cds_end": null,
"cds_length": 1605,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643970.2",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495148.1",
"strand": true,
"transcript": "ENST00000643970.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 534,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 777,
"cds_end": null,
"cds_length": 1605,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698528.1",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513777.1",
"strand": true,
"transcript": "ENST00000698528.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 525,
"aa_ref": "R",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 561,
"cds_end": null,
"cds_length": 1578,
"cds_start": 479,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000698533.1",
"gene_hgnc_id": 14579,
"gene_symbol": "VPS45",
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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