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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: 19-54632668-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54632668&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54632668,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000324602.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "NM_001081637.3",
"protein_id": "NP_001075106.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 652,
"cds_start": 866,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": "ENST00000324602.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "ENST00000324602.12",
"protein_id": "ENSP00000315997.7",
"transcript_support_level": 5,
"aa_start": 289,
"aa_end": null,
"aa_length": 652,
"cds_start": 866,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": "NM_001081637.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "ENST00000396315.5",
"protein_id": "ENSP00000379608.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 652,
"cds_start": 866,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 2157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "ENST00000396327.7",
"protein_id": "ENSP00000379618.3",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 651,
"cds_start": 866,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "ENST00000396332.8",
"protein_id": "ENSP00000379623.4",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 651,
"cds_start": 866,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "ENST00000396331.5",
"protein_id": "ENSP00000379622.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 650,
"cds_start": 866,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "ENST00000396317.5",
"protein_id": "ENSP00000379610.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 634,
"cds_start": 866,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325His",
"transcript": "ENST00000427581.6",
"protein_id": "ENSP00000395004.2",
"transcript_support_level": 5,
"aa_start": 325,
"aa_end": null,
"aa_length": 701,
"cds_start": 974,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 2751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "NM_001388358.1",
"protein_id": "NP_001375287.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 652,
"cds_start": 866,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "NM_001081638.4",
"protein_id": "NP_001075107.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 651,
"cds_start": 866,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "NM_001081639.4",
"protein_id": "NP_001075108.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 651,
"cds_start": 866,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1064,
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"cdna_length": 2832,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "NM_001388355.1",
"protein_id": "NP_001375284.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 651,
"cds_start": 866,
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"cdna_start": 1265,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "NM_001388356.1",
"protein_id": "NP_001375285.1",
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"aa_start": 289,
"aa_end": null,
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"cds_start": 866,
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"cdna_start": 1413,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "NM_001388357.1",
"protein_id": "NP_001375286.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "NM_006669.7",
"protein_id": "NP_006660.4",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 650,
"cds_start": 866,
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"cdna_start": 1252,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "NM_001278398.2",
"protein_id": "NP_001265327.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "NM_001278399.2",
"protein_id": "NP_001265328.2",
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"cds_start": 866,
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"cdna_start": 1031,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325His",
"transcript": "XM_047438080.1",
"protein_id": "XP_047294036.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 688,
"cds_start": 974,
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 8,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.974G>A",
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"transcript": "XM_047438081.1",
"protein_id": "XP_047294037.1",
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},
{
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"consequences": [
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],
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "LILRB1",
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"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325His",
"transcript": "XM_047438082.1",
"protein_id": "XP_047294038.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "LILRB1",
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"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325His",
"transcript": "XM_047438083.1",
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"cdna_start": 2052,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"transcript": "XM_047438084.1",
"protein_id": "XP_047294040.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 669,
"cds_start": 917,
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"cds_length": 2010,
"cdna_start": 1979,
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"cdna_length": 4216,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.917G>A",
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}
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}