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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: 2-164508541-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=164508541&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GRB14",
"hgnc_id": 4565,
"hgvs_c": "c.937G>T",
"hgvs_p": "p.Ala313Ser",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004490.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.0813,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08786147832870483,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 540,
"aa_ref": "A",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2415,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1623,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_004490.3",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.937G>T",
"hgvs_p": "p.Ala313Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263915.8",
"protein_coding": true,
"protein_id": "NP_004481.2",
"strand": false,
"transcript": "NM_004490.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 540,
"aa_ref": "A",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2415,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1623,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000263915.8",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.937G>T",
"hgvs_p": "p.Ala313Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004490.3",
"protein_coding": true,
"protein_id": "ENSP00000263915.3",
"strand": false,
"transcript": "ENST00000263915.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 414,
"aa_ref": "A",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1435,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1247,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000446413.6",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.802G>T",
"hgvs_p": "p.Ala268Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416786.2",
"strand": false,
"transcript": "ENST00000446413.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "A",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1782,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000943514.1",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.937G>T",
"hgvs_p": "p.Ala313Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613573.1",
"strand": false,
"transcript": "ENST00000943514.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "A",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000943511.1",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.1084G>T",
"hgvs_p": "p.Ala362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613570.1",
"strand": false,
"transcript": "ENST00000943511.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 540,
"aa_ref": "A",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2106,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1623,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894024.1",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.937G>T",
"hgvs_p": "p.Ala313Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564083.1",
"strand": false,
"transcript": "ENST00000894024.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 522,
"aa_ref": "A",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1569,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000911822.1",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.937G>T",
"hgvs_p": "p.Ala313Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581881.1",
"strand": false,
"transcript": "ENST00000911822.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 1548,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894027.1",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564086.1",
"strand": false,
"transcript": "ENST00000894027.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 513,
"aa_ref": "A",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1542,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894025.1",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.937G>T",
"hgvs_p": "p.Ala313Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564084.1",
"strand": false,
"transcript": "ENST00000894025.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 495,
"aa_ref": "A",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1488,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000943512.1",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.802G>T",
"hgvs_p": "p.Ala268Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613571.1",
"strand": false,
"transcript": "ENST00000943512.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "A",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1362,
"cds_start": 676,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001303422.2",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Ala226Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290351.1",
"strand": false,
"transcript": "NM_001303422.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "A",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1362,
"cds_start": 676,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000696453.2",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Ala226Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512640.1",
"strand": false,
"transcript": "ENST00000696453.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1975,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1023,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047444013.1",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Ala113Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299969.1",
"strand": false,
"transcript": "XM_047444013.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 336,
"aa_ref": "K",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1011,
"cds_start": 990,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047444014.1",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.990G>T",
"hgvs_p": "p.Lys330Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299970.1",
"strand": false,
"transcript": "XM_047444014.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 312,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1241,
"cdna_start": null,
"cds_end": null,
"cds_length": 939,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011511022.2",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.*102G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509324.1",
"strand": false,
"transcript": "XM_011511022.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 508,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": null,
"cds_end": null,
"cds_length": 1527,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894026.1",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.927+201G>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564085.1",
"strand": false,
"transcript": "ENST00000894026.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 481,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": null,
"cds_end": null,
"cds_length": 1446,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911821.1",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.927+201G>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581880.1",
"strand": false,
"transcript": "ENST00000911821.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 471,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": null,
"cds_end": null,
"cds_length": 1416,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943513.1",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "c.817-6206G>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613572.1",
"strand": false,
"transcript": "ENST00000943513.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1983,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000488342.5",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "n.1073G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000488342.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XR_427085.4",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "n.1163G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_427085.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 984,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000469573.1",
"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
"hgvs_c": "n.*122G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000469573.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
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"dbscsnv_ada_score": null,
"dbsnp": "rs370149376",
"effect": "missense_variant",
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"gene_hgnc_id": 4565,
"gene_symbol": "GRB14",
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"gnomad_mito_homoplasmic": null,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.003,
"pos": 164508541,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.161,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_004490.3"
}
]
}