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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: 1-219210603-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=219210603&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 219210603,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001350628.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.433T>G",
"hgvs_p": "p.Phe145Val",
"transcript": "NM_138794.5",
"protein_id": "NP_620149.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 237,
"cds_start": 433,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366928.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138794.5"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.433T>G",
"hgvs_p": "p.Phe145Val",
"transcript": "ENST00000366928.10",
"protein_id": "ENSP00000355895.5",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 237,
"cds_start": 433,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138794.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366928.10"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.385T>G",
"hgvs_p": "p.Phe129Val",
"transcript": "ENST00000366927.3",
"protein_id": "ENSP00000355894.3",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 221,
"cds_start": 385,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366927.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "n.244T>G",
"hgvs_p": null,
"transcript": "ENST00000474379.5",
"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": "pseudogene",
"feature": "ENST00000474379.5"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.460T>G",
"hgvs_p": "p.Phe154Val",
"transcript": "NM_001350628.2",
"protein_id": "NP_001337557.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 246,
"cds_start": 460,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350628.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.460T>G",
"hgvs_p": "p.Phe154Val",
"transcript": "ENST00000910159.1",
"protein_id": "ENSP00000580218.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 246,
"cds_start": 460,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910159.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.433T>G",
"hgvs_p": "p.Phe145Val",
"transcript": "ENST00000910160.1",
"protein_id": "ENSP00000580219.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 237,
"cds_start": 433,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910160.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.430T>G",
"hgvs_p": "p.Phe144Val",
"transcript": "ENST00000910161.1",
"protein_id": "ENSP00000580220.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 236,
"cds_start": 430,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910161.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.412T>G",
"hgvs_p": "p.Phe138Val",
"transcript": "NM_001350629.2",
"protein_id": "NP_001337558.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 230,
"cds_start": 412,
"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": "NM_001350629.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.412T>G",
"hgvs_p": "p.Phe138Val",
"transcript": "ENST00000910163.1",
"protein_id": "ENSP00000580222.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 230,
"cds_start": 412,
"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": "ENST00000910163.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.385T>G",
"hgvs_p": "p.Phe129Val",
"transcript": "NM_001300770.2",
"protein_id": "NP_001287699.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 221,
"cds_start": 385,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300770.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.385T>G",
"hgvs_p": "p.Phe129Val",
"transcript": "ENST00000910158.1",
"protein_id": "ENSP00000580217.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 221,
"cds_start": 385,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910158.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.382T>G",
"hgvs_p": "p.Phe128Val",
"transcript": "ENST00000910162.1",
"protein_id": "ENSP00000580221.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 220,
"cds_start": 382,
"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": "ENST00000910162.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.319T>G",
"hgvs_p": "p.Phe107Val",
"transcript": "NM_001300771.2",
"protein_id": "NP_001287700.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 199,
"cds_start": 319,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300771.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.319T>G",
"hgvs_p": "p.Phe107Val",
"transcript": "NM_001300772.2",
"protein_id": "NP_001287701.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 199,
"cds_start": 319,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300772.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.280T>G",
"hgvs_p": "p.Phe94Val",
"transcript": "NM_001300769.2",
"protein_id": "NP_001287698.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 186,
"cds_start": 280,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300769.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.163T>G",
"hgvs_p": "p.Phe55Val",
"transcript": "ENST00000917492.1",
"protein_id": "ENSP00000587551.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 147,
"cds_start": 163,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917492.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.460T>G",
"hgvs_p": "p.Phe154Val",
"transcript": "XM_017000271.3",
"protein_id": "XP_016855760.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 246,
"cds_start": 460,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000271.3"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.433T>G",
"hgvs_p": "p.Phe145Val",
"transcript": "XM_047445134.1",
"protein_id": "XP_047301090.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 237,
"cds_start": 433,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445134.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "c.385T>G",
"hgvs_p": "p.Phe129Val",
"transcript": "XM_047445138.1",
"protein_id": "XP_047301094.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 221,
"cds_start": 385,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445138.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "n.285T>G",
"hgvs_p": null,
"transcript": "ENST00000460522.5",
"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": "pseudogene",
"feature": "ENST00000460522.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "n.456T>G",
"hgvs_p": null,
"transcript": "ENST00000463964.5",
"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": "ENST00000463964.5"
},
{
"aa_ref": null,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007078568.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"hgvs_c": "n.398T>G",
"hgvs_p": null,
"transcript": "XR_007078569.1",
"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": "XR_007078569.1"
}
],
"gene_symbol": "LYPLAL1",
"gene_hgnc_id": 20440,
"dbsnp": "rs763668958",
"frequency_reference_population": 0.000006209869,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000480014,
"gnomad_genomes_af": 0.0000197304,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6218959093093872,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.348,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4858,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.442,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001350628.2",
"gene_symbol": "LYPLAL1",
"hgnc_id": 20440,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.460T>G",
"hgvs_p": "p.Phe154Val"
}
],
"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
}