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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: 1-23792743-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23792743&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23792743,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_007260.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "NM_007260.3",
"protein_id": "NP_009191.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 231,
"cds_start": 61,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374514.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007260.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000374514.8",
"protein_id": "ENSP00000363638.3",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 231,
"cds_start": 61,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007260.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374514.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000905312.1",
"protein_id": "ENSP00000575370.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 242,
"cds_start": 61,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905312.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000905307.1",
"protein_id": "ENSP00000575366.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 231,
"cds_start": 61,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905307.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000905310.1",
"protein_id": "ENSP00000575369.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 231,
"cds_start": 61,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905310.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000905316.1",
"protein_id": "ENSP00000575375.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 231,
"cds_start": 61,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905316.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000905317.1",
"protein_id": "ENSP00000575376.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 231,
"cds_start": 61,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905317.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000905318.1",
"protein_id": "ENSP00000575377.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 231,
"cds_start": 61,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905318.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000905319.1",
"protein_id": "ENSP00000575378.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 231,
"cds_start": 61,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905319.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000926742.1",
"protein_id": "ENSP00000596801.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 231,
"cds_start": 61,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926742.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000926743.1",
"protein_id": "ENSP00000596802.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 231,
"cds_start": 61,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926743.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000926744.1",
"protein_id": "ENSP00000596803.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 231,
"cds_start": 61,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926744.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000926745.1",
"protein_id": "ENSP00000596804.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 231,
"cds_start": 61,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926745.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000905308.1",
"protein_id": "ENSP00000575367.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 230,
"cds_start": 61,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905308.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000926746.1",
"protein_id": "ENSP00000596805.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 230,
"cds_start": 61,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926746.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000957286.1",
"protein_id": "ENSP00000627345.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 230,
"cds_start": 61,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957286.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000957285.1",
"protein_id": "ENSP00000627344.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 224,
"cds_start": 61,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957285.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000905314.1",
"protein_id": "ENSP00000575373.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 197,
"cds_start": 61,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905314.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000905309.1",
"protein_id": "ENSP00000575368.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 173,
"cds_start": 61,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905309.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000421070.1",
"protein_id": "ENSP00000388003.1",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 89,
"cds_start": 61,
"cds_end": null,
"cds_length": 272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421070.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.97G>A",
"hgvs_p": "p.Glu33Lys",
"transcript": "XM_005245728.6",
"protein_id": "XP_005245785.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 243,
"cds_start": 97,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245728.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLA2",
"gene_hgnc_id": 6738,
"hgvs_c": "c.207G>A",
"hgvs_p": "p.Leu69Leu",
"transcript": "ENST00000374503.8",
"protein_id": "ENSP00000363627.4",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 220,
"cds_start": 207,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374503.8"
},
{
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.39,
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"acmg_score": -5,
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{
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"BS2"
],
"verdict": "Likely_benign",
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"effects": [
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{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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},
{
"score": 1,
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"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
"intron_variant"
],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}