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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: 2-164497258-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=164497258&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 164497258,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004490.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Thr416Ile",
"transcript": "NM_004490.3",
"protein_id": "NP_004481.2",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 540,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": "ENST00000263915.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004490.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Thr416Ile",
"transcript": "ENST00000263915.8",
"protein_id": "ENSP00000263915.3",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 540,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": "NM_004490.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263915.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000446413.6",
"protein_id": "ENSP00000416786.2",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 414,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1247,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446413.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1406C>T",
"hgvs_p": "p.Thr469Ile",
"transcript": "ENST00000943514.1",
"protein_id": "ENSP00000613573.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 593,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943514.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Thr465Ile",
"transcript": "ENST00000943511.1",
"protein_id": "ENSP00000613570.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 589,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943511.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Thr416Ile",
"transcript": "ENST00000894024.1",
"protein_id": "ENSP00000564083.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 540,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894024.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Ile",
"transcript": "ENST00000894027.1",
"protein_id": "ENSP00000564086.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 515,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894027.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Thr389Ile",
"transcript": "ENST00000894025.1",
"protein_id": "ENSP00000564084.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 513,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894025.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Thr384Ile",
"transcript": "ENST00000894026.1",
"protein_id": "ENSP00000564085.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 508,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894026.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000943512.1",
"protein_id": "ENSP00000613571.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 495,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943512.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Thr357Ile",
"transcript": "ENST00000911821.1",
"protein_id": "ENSP00000581880.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 481,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911821.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Ile",
"transcript": "ENST00000943513.1",
"protein_id": "ENSP00000613572.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 471,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943513.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Thr329Ile",
"transcript": "NM_001303422.2",
"protein_id": "NP_001290351.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 453,
"cds_start": 986,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303422.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Thr329Ile",
"transcript": "ENST00000696453.2",
"protein_id": "ENSP00000512640.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 453,
"cds_start": 986,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696453.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.647C>T",
"hgvs_p": "p.Thr216Ile",
"transcript": "XM_047444013.1",
"protein_id": "XP_047299969.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 340,
"cds_start": 647,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 980,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1222-29C>T",
"hgvs_p": null,
"transcript": "ENST00000911822.1",
"protein_id": "ENSP00000581881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": null,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911822.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "n.1383C>T",
"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": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "n.-206C>T",
"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": "rs901611467",
"frequency_reference_population": 0.0000030988995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205295,
"gnomad_genomes_af": 0.0000131435,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05279681086540222,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.0886,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.494,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004490.3",
"gene_symbol": "GRB14",
"hgnc_id": 4565,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Thr416Ile"
}
],
"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
}