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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: 12-111789833-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111789833&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 111789833,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000690.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Ser",
"transcript": "NM_000690.4",
"protein_id": "NP_000681.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 517,
"cds_start": 451,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261733.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000690.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Ser",
"transcript": "ENST00000261733.7",
"protein_id": "ENSP00000261733.2",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 517,
"cds_start": 451,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000690.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261733.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257767",
"gene_hgnc_id": null,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Gly147Ser",
"transcript": "ENST00000546840.3",
"protein_id": "ENSP00000450353.4",
"transcript_support_level": 5,
"aa_start": 147,
"aa_end": null,
"aa_length": 259,
"cds_start": 439,
"cds_end": null,
"cds_length": 782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546840.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Ser",
"transcript": "ENST00000871406.1",
"protein_id": "ENSP00000541465.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 554,
"cds_start": 562,
"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": "ENST00000871406.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Ser",
"transcript": "ENST00000871417.1",
"protein_id": "ENSP00000541476.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 553,
"cds_start": 451,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871417.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Ser",
"transcript": "ENST00000951571.1",
"protein_id": "ENSP00000621630.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 553,
"cds_start": 451,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951571.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "ENST00000871421.1",
"protein_id": "ENSP00000541480.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 548,
"cds_start": 544,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871421.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.532G>A",
"hgvs_p": "p.Gly178Ser",
"transcript": "ENST00000951576.1",
"protein_id": "ENSP00000621635.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 544,
"cds_start": 532,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951576.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "ENST00000951573.1",
"protein_id": "ENSP00000621632.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 543,
"cds_start": 529,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951573.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Ser",
"transcript": "ENST00000931978.1",
"protein_id": "ENSP00000602037.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 522,
"cds_start": 451,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931978.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Gly153Ser",
"transcript": "ENST00000951572.1",
"protein_id": "ENSP00000621631.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 519,
"cds_start": 457,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951572.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Ser",
"transcript": "ENST00000871409.1",
"protein_id": "ENSP00000541468.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 513,
"cds_start": 451,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871409.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Ser",
"transcript": "ENST00000871414.1",
"protein_id": "ENSP00000541473.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 511,
"cds_start": 451,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871414.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Gly145Ser",
"transcript": "ENST00000931977.1",
"protein_id": "ENSP00000602036.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 511,
"cds_start": 433,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931977.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Ser",
"transcript": "ENST00000951568.1",
"protein_id": "ENSP00000621627.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 510,
"cds_start": 451,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951568.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Gly145Ser",
"transcript": "ENST00000951570.1",
"protein_id": "ENSP00000621629.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 510,
"cds_start": 433,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951570.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Gly141Ser",
"transcript": "ENST00000871431.1",
"protein_id": "ENSP00000541490.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 507,
"cds_start": 421,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871431.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Ser",
"transcript": "ENST00000871424.1",
"protein_id": "ENSP00000541483.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 502,
"cds_start": 451,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871424.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "ENST00000951569.1",
"protein_id": "ENSP00000621628.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 502,
"cds_start": 406,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951569.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Ser",
"transcript": "ENST00000871410.1",
"protein_id": "ENSP00000541469.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 499,
"cds_start": 451,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871410.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Ser",
"transcript": "ENST00000871420.1",
"protein_id": "ENSP00000541479.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 491,
"cds_start": 451,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871420.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH2",
"gene_hgnc_id": 404,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Gly116Ser",
"transcript": "ENST00000871407.1",
"protein_id": "ENSP00000541466.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 482,
"cds_start": 346,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871407.1"
},
{
"aa_ref": "G",
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"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000690.4",
"gene_symbol": "ALDH2",
"hgnc_id": 404,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Ser"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000546840.3",
"gene_symbol": "ENSG00000257767",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Gly147Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}