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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: 11-112037332-GAT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=112037332&ref=GAT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 112037332,
"ref": "GAT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_001372031.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs",
"transcript": "NM_001931.5",
"protein_id": "NP_001922.2",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 647,
"cds_start": 848,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280346.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001931.5"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs",
"transcript": "ENST00000280346.11",
"protein_id": "ENSP00000280346.7",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 647,
"cds_start": 848,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001931.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280346.11"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs",
"transcript": "NM_001372031.1",
"protein_id": "NP_001358960.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 653,
"cds_start": 848,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372031.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs",
"transcript": "ENST00000915657.1",
"protein_id": "ENSP00000585716.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 653,
"cds_start": 848,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915657.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs",
"transcript": "ENST00000713569.1",
"protein_id": "ENSP00000518862.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 647,
"cds_start": 848,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713569.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs",
"transcript": "NM_001372032.1",
"protein_id": "NP_001358961.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 645,
"cds_start": 848,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372032.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs",
"transcript": "ENST00000681316.1",
"protein_id": "ENSP00000506560.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 645,
"cds_start": 848,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681316.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs",
"transcript": "ENST00000915658.1",
"protein_id": "ENSP00000585717.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 643,
"cds_start": 848,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915658.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs",
"transcript": "NM_001372033.1",
"protein_id": "NP_001358962.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 640,
"cds_start": 848,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372033.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs",
"transcript": "ENST00000681328.1",
"protein_id": "ENSP00000506355.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 640,
"cds_start": 848,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681328.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.815_816delAT",
"hgvs_p": "p.Asp272fs",
"transcript": "NM_001372034.1",
"protein_id": "NP_001358963.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 636,
"cds_start": 815,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372034.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.815_816delAT",
"hgvs_p": "p.Asp272fs",
"transcript": "ENST00000679878.1",
"protein_id": "ENSP00000505567.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 636,
"cds_start": 815,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679878.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs",
"transcript": "ENST00000873897.1",
"protein_id": "ENSP00000543956.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 616,
"cds_start": 848,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873897.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs",
"transcript": "NM_001372035.1",
"protein_id": "NP_001358964.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 611,
"cds_start": 848,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372035.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs",
"transcript": "ENST00000681339.1",
"protein_id": "ENSP00000506167.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 611,
"cds_start": 848,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681339.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.722_723delAT",
"hgvs_p": "p.Asp241fs",
"transcript": "NM_001372036.1",
"protein_id": "NP_001358965.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 605,
"cds_start": 722,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372036.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.680_681delAT",
"hgvs_p": "p.Asp227fs",
"transcript": "NM_001372037.1",
"protein_id": "NP_001358966.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 591,
"cds_start": 680,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372037.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.593_594delAT",
"hgvs_p": "p.Asp198fs",
"transcript": "ENST00000680411.1",
"protein_id": "ENSP00000505915.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 562,
"cds_start": 593,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680411.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.569_570delAT",
"hgvs_p": "p.Asp190fs",
"transcript": "NM_001372038.1",
"protein_id": "NP_001358967.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 554,
"cds_start": 569,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372038.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.569_570delAT",
"hgvs_p": "p.Asp190fs",
"transcript": "ENST00000680331.1",
"protein_id": "ENSP00000506707.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 554,
"cds_start": 569,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680331.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.650_651delAT",
"hgvs_p": "p.Asp217fs",
"transcript": "ENST00000915659.1",
"protein_id": "ENSP00000585718.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 545,
"cds_start": 650,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915659.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.467_468delAT",
"hgvs_p": "p.Asp156fs",
"transcript": "NM_001372040.1",
"protein_id": "NP_001358969.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 520,
"cds_start": 467,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372040.1"
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"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "n.853-1911_853-1910delAT",
"hgvs_p": null,
"transcript": "NR_164072.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164072.1"
}
],
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"dbsnp": "rs782704553",
"frequency_reference_population": 0.0000013681444,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136814,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001372031.1",
"gene_symbol": "DLAT",
"hgnc_id": 2896,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.848_849delAT",
"hgvs_p": "p.Asp283fs"
}
],
"clinvar_disease": "Pyruvate dehydrogenase E2 deficiency",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Pyruvate dehydrogenase E2 deficiency",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}