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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: 2-30495375-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=30495375&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 30495375,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000379509.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.-4-30212A>G",
"hgvs_p": null,
"transcript": "NM_001002257.3",
"protein_id": "NP_001002257.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": -4,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": "ENST00000379509.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.-4-30212A>G",
"hgvs_p": null,
"transcript": "ENST00000379509.8",
"protein_id": "ENSP00000368823.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": -4,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": "NM_001002257.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.111-30212A>G",
"hgvs_p": null,
"transcript": "ENST00000309052.8",
"protein_id": "ENSP00000310551.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.111-30212A>G",
"hgvs_p": null,
"transcript": "NM_182551.5",
"protein_id": "NP_872357.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.-5+18740A>G",
"hgvs_p": null,
"transcript": "NM_001304445.2",
"protein_id": "NP_001291374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": -4,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.111-30212A>G",
"hgvs_p": null,
"transcript": "ENST00000319406.8",
"protein_id": "ENSP00000368826.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": -4,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.-364-37741A>G",
"hgvs_p": null,
"transcript": "NM_001304446.2",
"protein_id": "NP_001291375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.-4-30212A>G",
"hgvs_p": null,
"transcript": "ENST00000476038.5",
"protein_id": "ENSP00000419646.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": -4,
"cds_end": null,
"cds_length": 472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.111-30212A>G",
"hgvs_p": null,
"transcript": "ENST00000497423.1",
"protein_id": "ENSP00000417875.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": -4,
"cds_end": null,
"cds_length": 461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.-4-30212A>G",
"hgvs_p": null,
"transcript": "ENST00000466477.5",
"protein_id": "ENSP00000419966.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.-4-30212A>G",
"hgvs_p": null,
"transcript": "ENST00000476535.1",
"protein_id": "ENSP00000419444.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
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"cds_length": 412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.-4-30212A>G",
"hgvs_p": null,
"transcript": "ENST00000465200.5",
"protein_id": "ENSP00000420481.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 135,
"cds_start": -4,
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"cds_length": 409,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.-5+18740A>G",
"hgvs_p": null,
"transcript": "ENST00000465538.5",
"protein_id": "ENSP00000417565.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 122,
"cds_start": -4,
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"cds_length": 369,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.-5+6135A>G",
"hgvs_p": null,
"transcript": "ENST00000488144.5",
"protein_id": "ENSP00000417951.1",
"transcript_support_level": 3,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
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"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "n.*143+18740A>G",
"hgvs_p": null,
"transcript": "ENST00000478015.5",
"protein_id": "ENSP00000419735.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "n.160-37741A>G",
"hgvs_p": null,
"transcript": "ENST00000491680.6",
"protein_id": null,
"transcript_support_level": 2,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.111-30212A>G",
"hgvs_p": null,
"transcript": "XM_005264244.2",
"protein_id": "XP_005264301.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.111-30212A>G",
"hgvs_p": null,
"transcript": "XM_011532741.3",
"protein_id": "XP_011531043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.-4-30212A>G",
"hgvs_p": null,
"transcript": "XM_005264245.4",
"protein_id": "XP_005264302.1",
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},
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],
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"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.-5+18740A>G",
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"transcript": "XM_017003746.2",
"protein_id": "XP_016859235.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.-5+15464A>G",
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"transcript": "XM_047443868.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.111-30212A>G",
"hgvs_p": null,
"transcript": "XM_047443869.1",
"protein_id": "XP_047299825.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 308,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LCLAT1",
"gene_hgnc_id": 26756,
"hgvs_c": "c.111-30212A>G",
"hgvs_p": null,
"transcript": "XM_017003747.3",
"protein_id": "XP_016859236.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 252,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2031,
"mane_select": null,
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}
],
"gene_symbol": "LCLAT1",
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"dbsnp": "rs829650",
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"hom_count_reference_population": 3851,
"allele_count_reference_population": 33826,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.222481,
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"gnomad_genomes_ac": 33826,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3851,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.072,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000379509.8",
"gene_symbol": "LCLAT1",
"hgnc_id": 26756,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-4-30212A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}