← Back to variant description
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: 12-6977155-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6977155&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "LPCAT3",
"hgnc_id": 30244,
"hgvs_c": "c.1455G>A",
"hgvs_p": "p.Lys485Lys",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_005768.6",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "EMG1",
"hgnc_id": 16912,
"hgvs_c": "c.*1346C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_006331.8",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000290146",
"hgnc_id": null,
"hgvs_c": "n.624+1777C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000607161.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4399999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 487,
"aa_ref": "K",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2235,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1455,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_005768.6",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "c.1455G>A",
"hgvs_p": "p.Lys485Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261407.9",
"protein_coding": true,
"protein_id": "NP_005759.4",
"strand": false,
"transcript": "NM_005768.6",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 487,
"aa_ref": "K",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2235,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1455,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000261407.9",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "c.1455G>A",
"hgvs_p": "p.Lys485Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005768.6",
"protein_coding": true,
"protein_id": "ENSP00000261407.4",
"strand": false,
"transcript": "ENST00000261407.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 244,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": null,
"cds_end": null,
"cds_length": 735,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_006331.8",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.*1346C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000599672.6",
"protein_coding": true,
"protein_id": "NP_006322.4",
"strand": true,
"transcript": "NM_006331.8",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 244,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": null,
"cds_end": null,
"cds_length": 735,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000599672.6",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.*1346C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006331.8",
"protein_coding": true,
"protein_id": "ENSP00000470560.1",
"strand": true,
"transcript": "ENST00000599672.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2902,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000535479.5",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "n.*1078G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000438765.1",
"strand": false,
"transcript": "ENST00000535479.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2902,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000535479.5",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "n.*1078G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000438765.1",
"strand": false,
"transcript": "ENST00000535479.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 1087,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000607161.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000290146",
"hgvs_c": "n.624+1777C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000480420.1",
"strand": true,
"transcript": "ENST00000607161.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 534,
"aa_ref": "K",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 1680,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1596,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000954704.1",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "c.1596G>A",
"hgvs_p": "p.Lys532Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624763.1",
"strand": false,
"transcript": "ENST00000954704.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 524,
"aa_ref": "K",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": 1616,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1566,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000907766.1",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "c.1566G>A",
"hgvs_p": "p.Lys522Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577825.1",
"strand": false,
"transcript": "ENST00000907766.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "K",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1452,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000907765.1",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "c.1452G>A",
"hgvs_p": "p.Lys484Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577824.1",
"strand": false,
"transcript": "ENST00000907765.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "K",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1452,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000925114.1",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "c.1452G>A",
"hgvs_p": "p.Lys484Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595173.1",
"strand": false,
"transcript": "ENST00000925114.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 460,
"aa_ref": "K",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 1470,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1374,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000907763.1",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "c.1374G>A",
"hgvs_p": "p.Lys458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577822.1",
"strand": false,
"transcript": "ENST00000907763.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 458,
"aa_ref": "K",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2194,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1368,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000954703.1",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "c.1368G>A",
"hgvs_p": "p.Lys456Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624762.1",
"strand": false,
"transcript": "ENST00000954703.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 457,
"aa_ref": "K",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1365,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907768.1",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "c.1365G>A",
"hgvs_p": "p.Lys455Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577827.1",
"strand": false,
"transcript": "ENST00000907768.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 451,
"aa_ref": "K",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1347,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907764.1",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "c.1347G>A",
"hgvs_p": "p.Lys449Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577823.1",
"strand": false,
"transcript": "ENST00000907764.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2033,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1260,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000954705.1",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Lys420Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624764.1",
"strand": false,
"transcript": "ENST00000954705.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 391,
"aa_ref": "K",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1167,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907767.1",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Lys389Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577826.1",
"strand": false,
"transcript": "ENST00000907767.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 382,
"aa_ref": "K",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1985,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1149,
"cds_start": 1140,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000925113.1",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "c.1140G>A",
"hgvs_p": "p.Lys380Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595172.1",
"strand": false,
"transcript": "ENST00000925113.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4723,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001320049.2",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "c.*1346C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306978.1",
"strand": true,
"transcript": "NM_001320049.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 802,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000535021.5",
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"hgvs_c": "n.695G>A",
"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": "ENST00000535021.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 958,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261406.7",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000290146",
"hgvs_c": "n.603+1777C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476966.2",
"strand": true,
"transcript": "ENST00000261406.7",
"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": 1095,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_135131.2",
"gene_hgnc_id": 16912,
"gene_symbol": "EMG1",
"hgvs_c": "n.632+1777C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_135131.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1405137368",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000013794302,
"gene_hgnc_id": 30244,
"gene_symbol": "LPCAT3",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000137943,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.63,
"pos": 6977155,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005768.6"
}
]
}