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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: 19-54217175-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54217175&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54217175,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001320960.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1814G>T",
"hgvs_p": "p.Arg605Leu",
"transcript": "NM_006864.4",
"protein_id": "NP_006855.3",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 631,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000445347.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006864.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1814G>T",
"hgvs_p": "p.Arg605Leu",
"transcript": "ENST00000445347.2",
"protein_id": "ENSP00000388199.2",
"transcript_support_level": 2,
"aa_start": 605,
"aa_end": null,
"aa_length": 631,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006864.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445347.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1817G>T",
"hgvs_p": "p.Arg606Leu",
"transcript": "ENST00000245620.13",
"protein_id": "ENSP00000245620.9",
"transcript_support_level": 1,
"aa_start": 606,
"aa_end": null,
"aa_length": 632,
"cds_start": 1817,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245620.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.*1321G>T",
"hgvs_p": null,
"transcript": "ENST00000414379.5",
"protein_id": "ENSP00000416920.1",
"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": "ENST00000414379.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.*1321G>T",
"hgvs_p": null,
"transcript": "ENST00000414379.5",
"protein_id": "ENSP00000416920.1",
"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": "ENST00000414379.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1865G>T",
"hgvs_p": "p.Arg622Leu",
"transcript": "NM_001320960.2",
"protein_id": "NP_001307889.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 648,
"cds_start": 1865,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320960.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1850G>T",
"hgvs_p": "p.Arg617Leu",
"transcript": "ENST00000346401.10",
"protein_id": "ENSP00000345184.6",
"transcript_support_level": 5,
"aa_start": 617,
"aa_end": null,
"aa_length": 643,
"cds_start": 1850,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346401.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1820G>T",
"hgvs_p": "p.Arg607Leu",
"transcript": "ENST00000861603.1",
"protein_id": "ENSP00000531662.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 633,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861603.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1817G>T",
"hgvs_p": "p.Arg606Leu",
"transcript": "NM_001081450.3",
"protein_id": "NP_001074919.2",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 632,
"cds_start": 1817,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081450.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1817G>T",
"hgvs_p": "p.Arg606Leu",
"transcript": "ENST00000861602.1",
"protein_id": "ENSP00000531661.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 632,
"cds_start": 1817,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861602.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1814G>T",
"hgvs_p": "p.Arg605Leu",
"transcript": "ENST00000391750.5",
"protein_id": "ENSP00000375630.1",
"transcript_support_level": 5,
"aa_start": 605,
"aa_end": null,
"aa_length": 631,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391750.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.2048G>T",
"hgvs_p": "p.Arg683Leu",
"transcript": "XM_047438108.1",
"protein_id": "XP_047294064.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 709,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438108.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1871G>T",
"hgvs_p": "p.Arg624Leu",
"transcript": "XM_047438109.1",
"protein_id": "XP_047294065.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 650,
"cds_start": 1871,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438109.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1868G>T",
"hgvs_p": "p.Arg623Leu",
"transcript": "XM_011526381.3",
"protein_id": "XP_011524683.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 649,
"cds_start": 1868,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526381.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "c.1868G>T",
"hgvs_p": "p.Arg623Leu",
"transcript": "XM_011526382.3",
"protein_id": "XP_011524684.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 649,
"cds_start": 1868,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526382.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.445G>T",
"hgvs_p": null,
"transcript": "ENST00000460208.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000460208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.847G>T",
"hgvs_p": null,
"transcript": "ENST00000469273.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000469273.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.1873G>T",
"hgvs_p": null,
"transcript": "NR_135493.2",
"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_135493.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.1706G>T",
"hgvs_p": null,
"transcript": "NR_135494.2",
"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_135494.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.1765G>T",
"hgvs_p": null,
"transcript": "NR_135495.2",
"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_135495.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB3",
"gene_hgnc_id": 6607,
"hgvs_c": "n.1928G>T",
"hgvs_p": null,
"transcript": "NR_135496.2",
"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_135496.2"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "n.221-14566C>A",
"hgvs_p": null,
"transcript": "ENST00000448962.5",
"protein_id": "ENSP00000399623.1",
"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": "ENST00000448962.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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{
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{
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],
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}
],
"message": null
}