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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: 19-54276450-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54276450&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54276450,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005874.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Arg496Thr",
"transcript": "NM_001080978.4",
"protein_id": "NP_001074447.2",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 597,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314446.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080978.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Arg496Thr",
"transcript": "ENST00000314446.10",
"protein_id": "ENSP00000319960.5",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 597,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080978.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314446.10"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Arg497Thr",
"transcript": "ENST00000391749.4",
"protein_id": "ENSP00000375629.4",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 598,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391749.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Arg496Thr",
"transcript": "ENST00000391748.5",
"protein_id": "ENSP00000375628.1",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 597,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391748.5"
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1484-149G>C",
"hgvs_p": null,
"transcript": "ENST00000391746.5",
"protein_id": "ENSP00000375626.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": null,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391746.5"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "n.2295G>C",
"hgvs_p": null,
"transcript": "ENST00000493242.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000493242.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1502G>C",
"hgvs_p": "p.Arg501Thr",
"transcript": "ENST00000872967.1",
"protein_id": "ENSP00000543026.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 602,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872967.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Arg497Thr",
"transcript": "ENST00000872965.1",
"protein_id": "ENSP00000543024.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 599,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872965.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Arg497Thr",
"transcript": "NM_005874.5",
"protein_id": "NP_005865.3",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 598,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005874.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Arg497Thr",
"transcript": "ENST00000872963.1",
"protein_id": "ENSP00000543022.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 598,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872963.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Arg496Thr",
"transcript": "NM_001278403.3",
"protein_id": "NP_001265332.2",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 597,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278403.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Arg496Thr",
"transcript": "ENST00000872966.1",
"protein_id": "ENSP00000543025.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 597,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872966.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1439G>C",
"hgvs_p": "p.Arg480Thr",
"transcript": "ENST00000949069.1",
"protein_id": "ENSP00000619128.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 581,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949069.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1436G>C",
"hgvs_p": "p.Arg479Thr",
"transcript": "ENST00000949070.1",
"protein_id": "ENSP00000619129.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 580,
"cds_start": 1436,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949070.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1367G>C",
"hgvs_p": "p.Arg456Thr",
"transcript": "ENST00000872968.1",
"protein_id": "ENSP00000543027.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 557,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872968.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1367G>C",
"hgvs_p": "p.Arg456Thr",
"transcript": "ENST00000949068.1",
"protein_id": "ENSP00000619127.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 557,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949068.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1364G>C",
"hgvs_p": "p.Arg455Thr",
"transcript": "ENST00000949071.1",
"protein_id": "ENSP00000619130.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 556,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949071.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1142G>C",
"hgvs_p": "p.Arg381Thr",
"transcript": "NM_001278404.3",
"protein_id": "NP_001265333.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 482,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278404.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1142G>C",
"hgvs_p": "p.Arg381Thr",
"transcript": "ENST00000434421.5",
"protein_id": "ENSP00000410117.1",
"transcript_support_level": 2,
"aa_start": 381,
"aa_end": null,
"aa_length": 482,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434421.5"
},
{
"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": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1484-27G>C",
"hgvs_p": null,
"transcript": "ENST00000872964.1",
"protein_id": "ENSP00000543023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": null,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872964.1"
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1484-149G>C",
"hgvs_p": null,
"transcript": "NM_001278405.2",
"protein_id": "NP_001265334.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": null,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278405.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "n.515G>C",
"hgvs_p": null,
"transcript": "ENST00000455108.5",
"protein_id": "ENSP00000394130.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000455108.5"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "n.1669G>C",
"hgvs_p": null,
"transcript": "NR_103521.3",
"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_103521.3"
}
],
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"dbsnp": "rs759287360",
"frequency_reference_population": 0.000009435671,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000904251,
"gnomad_genomes_af": 0.0000131529,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07296434044837952,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.25999999046325684,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.1412,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.191,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.26,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005874.5",
"gene_symbol": "LILRB2",
"hgnc_id": 6606,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Arg497Thr"
}
],
"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
}