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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: 2-164493166-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=164493166&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 164493166,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004490.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1493A>C",
"hgvs_p": "p.Glu498Ala",
"transcript": "NM_004490.3",
"protein_id": "NP_004481.2",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 540,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": "ENST00000263915.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004490.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1493A>C",
"hgvs_p": "p.Glu498Ala",
"transcript": "ENST00000263915.8",
"protein_id": "ENSP00000263915.3",
"transcript_support_level": 1,
"aa_start": 498,
"aa_end": null,
"aa_length": 540,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": "NM_004490.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263915.8"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1652A>C",
"hgvs_p": "p.Glu551Ala",
"transcript": "ENST00000943514.1",
"protein_id": "ENSP00000613573.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 593,
"cds_start": 1652,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943514.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1640A>C",
"hgvs_p": "p.Glu547Ala",
"transcript": "ENST00000943511.1",
"protein_id": "ENSP00000613570.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 589,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943511.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1493A>C",
"hgvs_p": "p.Glu498Ala",
"transcript": "ENST00000894024.1",
"protein_id": "ENSP00000564083.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 540,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894024.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1439A>C",
"hgvs_p": "p.Glu480Ala",
"transcript": "ENST00000911822.1",
"protein_id": "ENSP00000581881.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 522,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911822.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1418A>C",
"hgvs_p": "p.Glu473Ala",
"transcript": "ENST00000894027.1",
"protein_id": "ENSP00000564086.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 515,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894027.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1412A>C",
"hgvs_p": "p.Glu471Ala",
"transcript": "ENST00000894025.1",
"protein_id": "ENSP00000564084.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 513,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894025.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1397A>C",
"hgvs_p": "p.Glu466Ala",
"transcript": "ENST00000894026.1",
"protein_id": "ENSP00000564085.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 508,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894026.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1358A>C",
"hgvs_p": "p.Glu453Ala",
"transcript": "ENST00000943512.1",
"protein_id": "ENSP00000613571.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 495,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943512.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1316A>C",
"hgvs_p": "p.Glu439Ala",
"transcript": "ENST00000911821.1",
"protein_id": "ENSP00000581880.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 481,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911821.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1286A>C",
"hgvs_p": "p.Glu429Ala",
"transcript": "ENST00000943513.1",
"protein_id": "ENSP00000613572.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 471,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943513.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1232A>C",
"hgvs_p": "p.Glu411Ala",
"transcript": "NM_001303422.2",
"protein_id": "NP_001290351.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 453,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303422.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1232A>C",
"hgvs_p": "p.Glu411Ala",
"transcript": "ENST00000696453.2",
"protein_id": "ENSP00000512640.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 453,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696453.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.893A>C",
"hgvs_p": "p.Glu298Ala",
"transcript": "XM_047444013.1",
"protein_id": "XP_047299969.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 340,
"cds_start": 893,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444013.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "n.1629A>C",
"hgvs_p": null,
"transcript": "ENST00000488342.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488342.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "n.62A>C",
"hgvs_p": null,
"transcript": "ENST00000497306.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 406,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497306.1"
}
],
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18670403957366943,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.123,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.148,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004490.3",
"gene_symbol": "GRB14",
"hgnc_id": 4565,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1493A>C",
"hgvs_p": "p.Glu498Ala"
}
],
"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
}