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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: X-41346607-C-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=41346607&ref=C&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "DDX3X",
"hgnc_id": 2745,
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"inheritance_mode": "XL,AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001356.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 662,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4635,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1602,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001356.5",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644876.2",
"protein_coding": true,
"protein_id": "NP_001347.3",
"strand": true,
"transcript": "NM_001356.5",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 662,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4635,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1602,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000644876.2",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001356.5",
"protein_coding": true,
"protein_id": "ENSP00000494040.1",
"strand": true,
"transcript": "ENST00000644876.2",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 661,
"aa_ref": "R",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4632,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1599,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000399959.7",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1598dupG",
"hgvs_p": "p.Val534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382840.3",
"strand": true,
"transcript": "ENST00000399959.7",
"transcript_support_level": 1
},
{
"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": 3397,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000478993.5",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "n.1601dupG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000478443.1",
"strand": true,
"transcript": "ENST00000478993.5",
"transcript_support_level": 1
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 733,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 2202,
"cds_start": 1602,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000625837.2",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486306.1",
"strand": true,
"transcript": "ENST00000625837.2",
"transcript_support_level": 5
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 717,
"aa_ref": "R",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4730,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1767,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000875789.1",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1766dupG",
"hgvs_p": "p.Val590fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545848.1",
"strand": true,
"transcript": "ENST00000875789.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 716,
"aa_ref": "R",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4409,
"cdna_start": 1855,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1764,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000644109.1",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1763dupG",
"hgvs_p": "p.Val589fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494952.1",
"strand": true,
"transcript": "ENST00000644109.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 716,
"aa_ref": "R",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1767,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000875787.1",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1766dupG",
"hgvs_p": "p.Val590fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545846.1",
"strand": true,
"transcript": "ENST00000875787.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 662,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5036,
"cdna_start": 2081,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1602,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000629496.3",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487224.1",
"strand": true,
"transcript": "ENST00000629496.3",
"transcript_support_level": 5
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 662,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1602,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000644513.1",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493819.1",
"strand": true,
"transcript": "ENST00000644513.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 662,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1602,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000875792.1",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545851.1",
"strand": true,
"transcript": "ENST00000875792.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 661,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6026,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1602,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001193416.3",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180345.1",
"strand": true,
"transcript": "NM_001193416.3",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 661,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4554,
"cdna_start": 1680,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1602,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000646319.1",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495377.1",
"strand": true,
"transcript": "ENST00000646319.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 661,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4632,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1602,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000875784.1",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545843.1",
"strand": true,
"transcript": "ENST00000875784.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 660,
"aa_ref": "R",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4620,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1599,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000644074.1",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1598dupG",
"hgvs_p": "p.Val534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496663.1",
"strand": true,
"transcript": "ENST00000644074.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 660,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4637,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1602,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000875783.1",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545842.1",
"strand": true,
"transcript": "ENST00000875783.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 654,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4545,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1602,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000875788.1",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545847.1",
"strand": true,
"transcript": "ENST00000875788.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4545,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1602,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000875786.1",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545845.1",
"strand": true,
"transcript": "ENST00000875786.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1602,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000875791.1",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1601dupG",
"hgvs_p": "p.Val535fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545850.1",
"strand": true,
"transcript": "ENST00000875791.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4349,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1560,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000644073.1",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1559dupG",
"hgvs_p": "p.Val521fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493475.1",
"strand": true,
"transcript": "ENST00000644073.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 646,
"aa_ref": "R",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5981,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1554,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001193417.3",
"gene_hgnc_id": 2745,
"gene_symbol": "DDX3X",
"hgvs_c": "c.1553dupG",
"hgvs_p": "p.Val519fs",
"intron_rank": null,
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