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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: 20-391332-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=391332&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 391332,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001301201.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "NM_021158.5",
"protein_id": "NP_066981.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000217233.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021158.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000217233.9",
"protein_id": "ENSP00000217233.3",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021158.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217233.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000883799.1",
"protein_id": "ENSP00000553858.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 398,
"cds_start": 337,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883799.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Trp",
"transcript": "NM_001301201.1",
"protein_id": "NP_001288130.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 385,
"cds_start": 418,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301201.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Trp",
"transcript": "ENST00000422053.3",
"protein_id": "ENSP00000415416.2",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 385,
"cds_start": 418,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422053.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "NM_001301188.1",
"protein_id": "NP_001288117.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301188.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "NM_001301190.1",
"protein_id": "NP_001288119.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301190.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "NM_001301193.1",
"protein_id": "NP_001288122.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301193.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "NM_001301196.1",
"protein_id": "NP_001288125.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301196.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000449710.6",
"protein_id": "ENSP00000391873.2",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449710.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000615226.5",
"protein_id": "ENSP00000478194.2",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615226.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000714424.1",
"protein_id": "ENSP00000519693.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714424.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000714425.1",
"protein_id": "ENSP00000519694.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714425.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000714427.1",
"protein_id": "ENSP00000519696.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714427.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000714428.1",
"protein_id": "ENSP00000519697.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714428.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000883797.1",
"protein_id": "ENSP00000553856.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883797.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000883798.1",
"protein_id": "ENSP00000553857.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883798.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000883800.1",
"protein_id": "ENSP00000553859.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883800.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000883801.1",
"protein_id": "ENSP00000553860.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883801.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000930143.1",
"protein_id": "ENSP00000600202.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930143.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000930144.1",
"protein_id": "ENSP00000600203.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930144.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000969420.1",
"protein_id": "ENSP00000639479.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 358,
"cds_start": 337,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969420.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.291+3031C>T",
"hgvs_p": null,
"transcript": "ENST00000714426.1",
"protein_id": "ENSP00000519695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714426.1"
}
],
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"dbsnp": "rs773647097",
"frequency_reference_population": 0.00006137122,
"hom_count_reference_population": 0,
"allele_count_reference_population": 99,
"gnomad_exomes_af": 0.0000643429,
"gnomad_genomes_af": 0.0000328489,
"gnomad_exomes_ac": 94,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4512755274772644,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.29,
"revel_prediction": "Benign",
"alphamissense_score": 0.0952,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.187,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001301201.1",
"gene_symbol": "TRIB3",
"hgnc_id": 16228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Trp"
}
],
"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
}