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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: 12-6977208-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6977208&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6977208,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005768.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "c.1402A>G",
"hgvs_p": "p.Ile468Val",
"transcript": "NM_005768.6",
"protein_id": "NP_005759.4",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 487,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261407.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005768.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "c.1402A>G",
"hgvs_p": "p.Ile468Val",
"transcript": "ENST00000261407.9",
"protein_id": "ENSP00000261407.4",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 487,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005768.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261407.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.*1399T>C",
"hgvs_p": null,
"transcript": "NM_006331.8",
"protein_id": "NP_006322.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000599672.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006331.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.*1399T>C",
"hgvs_p": null,
"transcript": "ENST00000599672.6",
"protein_id": "ENSP00000470560.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006331.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599672.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "n.*1025A>G",
"hgvs_p": null,
"transcript": "ENST00000535479.5",
"protein_id": "ENSP00000438765.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000535479.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "n.*1025A>G",
"hgvs_p": null,
"transcript": "ENST00000535479.5",
"protein_id": "ENSP00000438765.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000535479.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290146",
"gene_hgnc_id": null,
"hgvs_c": "n.624+1830T>C",
"hgvs_p": null,
"transcript": "ENST00000607161.5",
"protein_id": "ENSP00000480420.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000607161.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "c.1543A>G",
"hgvs_p": "p.Ile515Val",
"transcript": "ENST00000954704.1",
"protein_id": "ENSP00000624763.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 534,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954704.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "c.1513A>G",
"hgvs_p": "p.Ile505Val",
"transcript": "ENST00000907766.1",
"protein_id": "ENSP00000577825.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 524,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907766.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "c.1399A>G",
"hgvs_p": "p.Ile467Val",
"transcript": "ENST00000907765.1",
"protein_id": "ENSP00000577824.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 486,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907765.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "c.1399A>G",
"hgvs_p": "p.Ile467Val",
"transcript": "ENST00000925114.1",
"protein_id": "ENSP00000595173.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 486,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925114.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "c.1321A>G",
"hgvs_p": "p.Ile441Val",
"transcript": "ENST00000907763.1",
"protein_id": "ENSP00000577822.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 460,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907763.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Ile439Val",
"transcript": "ENST00000954703.1",
"protein_id": "ENSP00000624762.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 458,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954703.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Ile438Val",
"transcript": "ENST00000907768.1",
"protein_id": "ENSP00000577827.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 457,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907768.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Ile432Val",
"transcript": "ENST00000907764.1",
"protein_id": "ENSP00000577823.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 451,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907764.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "c.1207A>G",
"hgvs_p": "p.Ile403Val",
"transcript": "ENST00000954705.1",
"protein_id": "ENSP00000624764.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 422,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954705.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "c.1114A>G",
"hgvs_p": "p.Ile372Val",
"transcript": "ENST00000907767.1",
"protein_id": "ENSP00000577826.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 391,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907767.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Ile363Val",
"transcript": "ENST00000925113.1",
"protein_id": "ENSP00000595172.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 382,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925113.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.*1399T>C",
"hgvs_p": null,
"transcript": "NM_001320049.2",
"protein_id": "NP_001306978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320049.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"hgvs_c": "n.642A>G",
"hgvs_p": null,
"transcript": "ENST00000535021.5",
"protein_id": null,
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000535021.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290146",
"gene_hgnc_id": null,
"hgvs_c": "n.603+1830T>C",
"hgvs_p": null,
"transcript": "ENST00000261406.7",
"protein_id": "ENSP00000476966.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000261406.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "n.632+1830T>C",
"hgvs_p": null,
"transcript": "NR_135131.2",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135131.2"
}
],
"gene_symbol": "LPCAT3",
"gene_hgnc_id": 30244,
"dbsnp": "rs782718258",
"frequency_reference_population": 0.000010533281,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000102618,
"gnomad_genomes_af": 0.0000131401,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.036337077617645264,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.0655,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.756,
"phylop100way_prediction": "Benign",
"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": -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_005768.6",
"gene_symbol": "LPCAT3",
"hgnc_id": 30244,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1402A>G",
"hgvs_p": "p.Ile468Val"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006331.8",
"gene_symbol": "EMG1",
"hgnc_id": 16912,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1399T>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000607161.5",
"gene_symbol": "ENSG00000290146",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.624+1830T>C",
"hgvs_p": null
}
],
"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
}