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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: 4-122309365-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=122309365&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 122309365,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000679879.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10153G>C",
"hgvs_p": "p.Gly3385Arg",
"transcript": "NM_001384125.1",
"protein_id": "NP_001371054.1",
"transcript_support_level": null,
"aa_start": 3385,
"aa_end": null,
"aa_length": 5093,
"cds_start": 10153,
"cds_end": null,
"cds_length": 15282,
"cdna_start": 10528,
"cdna_end": null,
"cdna_length": 16162,
"mane_select": "ENST00000679879.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10153G>C",
"hgvs_p": "p.Gly3385Arg",
"transcript": "ENST00000679879.1",
"protein_id": "ENSP00000505357.1",
"transcript_support_level": null,
"aa_start": 3385,
"aa_end": null,
"aa_length": 5093,
"cds_start": 10153,
"cds_end": null,
"cds_length": 15282,
"cdna_start": 10528,
"cdna_end": null,
"cdna_length": 16162,
"mane_select": "NM_001384125.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10102G>C",
"hgvs_p": "p.Gly3368Arg",
"transcript": "ENST00000388738.8",
"protein_id": "ENSP00000373390.4",
"transcript_support_level": 1,
"aa_start": 3368,
"aa_end": null,
"aa_length": 4890,
"cds_start": 10102,
"cds_end": null,
"cds_length": 14673,
"cdna_start": 10425,
"cdna_end": null,
"cdna_length": 15456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.4024G>C",
"hgvs_p": "p.Gly1342Arg",
"transcript": "ENST00000419325.5",
"protein_id": "ENSP00000393219.1",
"transcript_support_level": 1,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1637,
"cds_start": 4024,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 4025,
"cdna_end": null,
"cdna_length": 4967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10153G>C",
"hgvs_p": "p.Gly3385Arg",
"transcript": "NM_015312.4",
"protein_id": "NP_056127.2",
"transcript_support_level": null,
"aa_start": 3385,
"aa_end": null,
"aa_length": 5005,
"cds_start": 10153,
"cds_end": null,
"cds_length": 15018,
"cdna_start": 10198,
"cdna_end": null,
"cdna_length": 15568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10153G>C",
"hgvs_p": "p.Gly3385Arg",
"transcript": "ENST00000264501.8",
"protein_id": "ENSP00000264501.4",
"transcript_support_level": 5,
"aa_start": 3385,
"aa_end": null,
"aa_length": 5005,
"cds_start": 10153,
"cds_end": null,
"cds_length": 15018,
"cdna_start": 10526,
"cdna_end": null,
"cdna_length": 15896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.715G>C",
"hgvs_p": "p.Gly239Arg",
"transcript": "ENST00000686836.1",
"protein_id": "ENSP00000510157.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1881,
"cds_start": 715,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 6144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1G>C",
"hgvs_p": "p.Gly1Arg",
"transcript": "ENST00000438707.5",
"protein_id": "ENSP00000410874.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 1674,
"cds_start": 1,
"cds_end": null,
"cds_length": 5025,
"cdna_start": 1,
"cdna_end": null,
"cdna_length": 5528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.100G>C",
"hgvs_p": "p.Gly34Arg",
"transcript": "ENST00000421930.6",
"protein_id": "ENSP00000408229.2",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 207,
"cds_start": 100,
"cds_end": null,
"cds_length": 624,
"cdna_start": 100,
"cdna_end": null,
"cdna_length": 624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10153G>C",
"hgvs_p": "p.Gly3385Arg",
"transcript": "XM_011532320.4",
"protein_id": "XP_011530622.1",
"transcript_support_level": null,
"aa_start": 3385,
"aa_end": null,
"aa_length": 5093,
"cds_start": 10153,
"cds_end": null,
"cds_length": 15282,
"cdna_start": 10637,
"cdna_end": null,
"cdna_length": 16271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10153G>C",
"hgvs_p": "p.Gly3385Arg",
"transcript": "XM_047416251.1",
"protein_id": "XP_047272207.1",
"transcript_support_level": null,
"aa_start": 3385,
"aa_end": null,
"aa_length": 5093,
"cds_start": 10153,
"cds_end": null,
"cds_length": 15282,
"cdna_start": 10553,
"cdna_end": null,
"cdna_length": 16187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10153G>C",
"hgvs_p": "p.Gly3385Arg",
"transcript": "XM_047416252.1",
"protein_id": "XP_047272208.1",
"transcript_support_level": null,
"aa_start": 3385,
"aa_end": null,
"aa_length": 5093,
"cds_start": 10153,
"cds_end": null,
"cds_length": 15282,
"cdna_start": 10688,
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"cdna_length": 16322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10153G>C",
"hgvs_p": "p.Gly3385Arg",
"transcript": "XM_047416253.1",
"protein_id": "XP_047272209.1",
"transcript_support_level": null,
"aa_start": 3385,
"aa_end": null,
"aa_length": 5093,
"cds_start": 10153,
"cds_end": null,
"cds_length": 15282,
"cdna_start": 10601,
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"cdna_length": 16235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10153G>C",
"hgvs_p": "p.Gly3385Arg",
"transcript": "XM_047416254.1",
"protein_id": "XP_047272210.1",
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"aa_start": 3385,
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"cdna_start": 11220,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10150G>C",
"hgvs_p": "p.Gly3384Arg",
"transcript": "XM_011532322.2",
"protein_id": "XP_011530624.1",
"transcript_support_level": null,
"aa_start": 3384,
"aa_end": null,
"aa_length": 5092,
"cds_start": 10150,
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"cds_length": 15279,
"cdna_start": 10525,
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"cdna_length": 16159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10150G>C",
"hgvs_p": "p.Gly3384Arg",
"transcript": "XM_047416255.1",
"protein_id": "XP_047272211.1",
"transcript_support_level": null,
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"cdna_start": 10794,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10150G>C",
"hgvs_p": "p.Gly3384Arg",
"transcript": "XM_047416256.1",
"protein_id": "XP_047272212.1",
"transcript_support_level": null,
"aa_start": 3384,
"aa_end": null,
"aa_length": 5092,
"cds_start": 10150,
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"cdna_start": 10685,
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"cdna_length": 16319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10150G>C",
"hgvs_p": "p.Gly3384Arg",
"transcript": "XM_047416257.1",
"protein_id": "XP_047272213.1",
"transcript_support_level": null,
"aa_start": 3384,
"aa_end": null,
"aa_length": 5092,
"cds_start": 10150,
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"cdna_start": 10550,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10150G>C",
"hgvs_p": "p.Gly3384Arg",
"transcript": "XM_047416258.1",
"protein_id": "XP_047272214.1",
"transcript_support_level": null,
"aa_start": 3384,
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},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10102G>C",
"hgvs_p": "p.Gly3368Arg",
"transcript": "XM_011532323.2",
"protein_id": "XP_011530625.1",
"transcript_support_level": null,
"aa_start": 3368,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10153G>C",
"hgvs_p": "p.Gly3385Arg",
"transcript": "XM_011532324.2",
"protein_id": "XP_011530626.1",
"transcript_support_level": null,
"aa_start": 3385,
"aa_end": null,
"aa_length": 5072,
"cds_start": 10153,
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"cdna_start": 10528,
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"cdna_length": 16099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.10153G>C",
"hgvs_p": "p.Gly3385Arg",
"transcript": "XM_011532325.2",
"protein_id": "XP_011530627.1",
"transcript_support_level": null,
"aa_start": 3385,
"aa_end": null,
"aa_length": 5058,
"cds_start": 10153,
"cds_end": null,
"cds_length": 15177,
"cdna_start": 10528,
"cdna_end": null,
"cdna_length": 16057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
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"phenotype_combined": "Alkuraya-Kucinskas syndrome",
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}
],
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}