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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: 11-119100765-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119100765&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DPAGT1",
"hgnc_id": 2995,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001382.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5",
"acmg_score": 11,
"allele_count_reference_population": 75,
"alphamissense_prediction": null,
"alphamissense_score": 0.5656,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.45,
"chr": "11",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Congenital myasthenic syndrome 13,DPAGT1-congenital disorder of glycosylation",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9483193159103394,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 408,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1913,
"cdna_start": 559,
"cds_end": null,
"cds_length": 1227,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001382.4",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354202.9",
"protein_coding": true,
"protein_id": "NP_001373.2",
"strand": false,
"transcript": "NM_001382.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 408,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1913,
"cdna_start": 559,
"cds_end": null,
"cds_length": 1227,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000354202.9",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382.4",
"protein_coding": true,
"protein_id": "ENSP00000346142.4",
"strand": false,
"transcript": "ENST00000354202.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 408,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 1913,
"cds_end": null,
"cds_length": 1227,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000409993.6",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386597.2",
"strand": false,
"transcript": "ENST00000409993.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 408,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1227,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000867497.1",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537556.1",
"strand": false,
"transcript": "ENST00000867497.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 408,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1227,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000938549.1",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608608.1",
"strand": false,
"transcript": "ENST00000938549.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 408,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 791,
"cds_end": null,
"cds_length": 1227,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945326.1",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615385.1",
"strand": false,
"transcript": "ENST00000945326.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1881,
"cdna_start": 520,
"cds_end": null,
"cds_length": 1188,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000867498.1",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537557.1",
"strand": false,
"transcript": "ENST00000867498.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 389,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 493,
"cds_end": null,
"cds_length": 1170,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938551.1",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Arg102Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608610.1",
"strand": false,
"transcript": "ENST00000938551.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 386,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": 590,
"cds_end": null,
"cds_length": 1161,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000945327.1",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615386.1",
"strand": false,
"transcript": "ENST00000945327.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 385,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1846,
"cdna_start": 556,
"cds_end": null,
"cds_length": 1158,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938550.1",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608609.1",
"strand": false,
"transcript": "ENST00000938550.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 450,
"cds_end": null,
"cds_length": 1140,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000682791.1",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.274C>T",
"hgvs_p": "p.Arg92Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507312.1",
"strand": false,
"transcript": "ENST00000682791.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": 385,
"cds_end": null,
"cds_length": 1140,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000945328.1",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615387.1",
"strand": false,
"transcript": "ENST00000945328.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": 559,
"cds_end": null,
"cds_length": 1305,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005271422.4",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271479.1",
"strand": false,
"transcript": "XM_005271422.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 408,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4351,
"cdna_start": 559,
"cds_end": null,
"cds_length": 1227,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047426508.1",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282464.1",
"strand": false,
"transcript": "XM_047426508.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 327,
"aa_ref": "R",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": 438,
"cds_end": null,
"cds_length": 984,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011542648.3",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540950.1",
"strand": false,
"transcript": "XM_011542648.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 313,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1271,
"cdna_start": 559,
"cds_end": null,
"cds_length": 942,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047426509.1",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282465.1",
"strand": false,
"transcript": "XM_047426509.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 250,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1082,
"cdna_start": 559,
"cds_end": null,
"cds_length": 753,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047426510.1",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282466.1",
"strand": false,
"transcript": "XM_047426510.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1014,
"cdna_start": 559,
"cds_end": null,
"cds_length": 729,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017017294.3",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872783.1",
"strand": false,
"transcript": "XM_017017294.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 377,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": null,
"cds_end": null,
"cds_length": 1134,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639704.1",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.283-15C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491336.1",
"strand": false,
"transcript": "ENST00000639704.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 236,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1578,
"cdna_start": null,
"cds_end": null,
"cds_length": 711,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017017295.2",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "c.-20-357C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872784.1",
"strand": false,
"transcript": "XM_017017295.2",
"transcript_support_level": null
},
{
"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": 1817,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000392834.7",
"gene_hgnc_id": 2995,
"gene_symbol": "DPAGT1",
"hgvs_c": "n.*66C>T",
"hgvs_p": null,
"intron_rank": null,
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"transcript": "NM_001382.4"
}
]
}