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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: 2-10790777-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=10790777&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 10790777,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001282704.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.641A>T",
"hgvs_p": "p.Lys214Ile",
"transcript": "NM_005742.4",
"protein_id": "NP_005733.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 440,
"cds_start": 641,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272227.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005742.4"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.641A>T",
"hgvs_p": "p.Lys214Ile",
"transcript": "ENST00000272227.8",
"protein_id": "ENSP00000272227.4",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 440,
"cds_start": 641,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005742.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272227.8"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.797A>T",
"hgvs_p": "p.Lys266Ile",
"transcript": "NM_001282704.2",
"protein_id": "NP_001269633.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 492,
"cds_start": 797,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282704.2"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.797A>T",
"hgvs_p": "p.Lys266Ile",
"transcript": "ENST00000404371.6",
"protein_id": "ENSP00000385385.2",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 492,
"cds_start": 797,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404371.6"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.797A>T",
"hgvs_p": "p.Lys266Ile",
"transcript": "ENST00000617249.4",
"protein_id": "ENSP00000481892.1",
"transcript_support_level": 5,
"aa_start": 266,
"aa_end": null,
"aa_length": 492,
"cds_start": 797,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617249.4"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.785A>T",
"hgvs_p": "p.Lys262Ile",
"transcript": "NM_001282705.2",
"protein_id": "NP_001269634.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 488,
"cds_start": 785,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282705.2"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.785A>T",
"hgvs_p": "p.Lys262Ile",
"transcript": "ENST00000404824.2",
"protein_id": "ENSP00000384459.2",
"transcript_support_level": 2,
"aa_start": 262,
"aa_end": null,
"aa_length": 488,
"cds_start": 785,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404824.2"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.656A>T",
"hgvs_p": "p.Lys219Ile",
"transcript": "NM_001282706.2",
"protein_id": "NP_001269635.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 445,
"cds_start": 656,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282706.2"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.656A>T",
"hgvs_p": "p.Lys219Ile",
"transcript": "ENST00000381611.8",
"protein_id": "ENSP00000371024.4",
"transcript_support_level": 2,
"aa_start": 219,
"aa_end": null,
"aa_length": 445,
"cds_start": 656,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381611.8"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.641A>T",
"hgvs_p": "p.Lys214Ile",
"transcript": "ENST00000852338.1",
"protein_id": "ENSP00000522397.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 439,
"cds_start": 641,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852338.1"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.641A>T",
"hgvs_p": "p.Lys214Ile",
"transcript": "ENST00000921616.1",
"protein_id": "ENSP00000591675.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 438,
"cds_start": 641,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921616.1"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.632A>T",
"hgvs_p": "p.Lys211Ile",
"transcript": "NM_001282707.2",
"protein_id": "NP_001269636.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 437,
"cds_start": 632,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282707.2"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.632A>T",
"hgvs_p": "p.Lys211Ile",
"transcript": "ENST00000540494.5",
"protein_id": "ENSP00000438778.1",
"transcript_support_level": 2,
"aa_start": 211,
"aa_end": null,
"aa_length": 437,
"cds_start": 632,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540494.5"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.641A>T",
"hgvs_p": "p.Lys214Ile",
"transcript": "ENST00000852340.1",
"protein_id": "ENSP00000522399.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 437,
"cds_start": 641,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852340.1"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.641A>T",
"hgvs_p": "p.Lys214Ile",
"transcript": "ENST00000921617.1",
"protein_id": "ENSP00000591676.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 437,
"cds_start": 641,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921617.1"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.623A>T",
"hgvs_p": "p.Lys208Ile",
"transcript": "ENST00000852337.1",
"protein_id": "ENSP00000522396.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 434,
"cds_start": 623,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852337.1"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.566A>T",
"hgvs_p": "p.Lys189Ile",
"transcript": "ENST00000852341.1",
"protein_id": "ENSP00000522400.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 415,
"cds_start": 566,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852341.1"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.641A>T",
"hgvs_p": "p.Lys214Ile",
"transcript": "ENST00000960557.1",
"protein_id": "ENSP00000630616.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 393,
"cds_start": 641,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960557.1"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.641A>T",
"hgvs_p": "p.Lys214Ile",
"transcript": "ENST00000960556.1",
"protein_id": "ENSP00000630615.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 387,
"cds_start": 641,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960556.1"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.314A>T",
"hgvs_p": "p.Lys105Ile",
"transcript": "ENST00000921619.1",
"protein_id": "ENSP00000591678.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 331,
"cds_start": 314,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921619.1"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.641A>T",
"hgvs_p": "p.Lys214Ile",
"transcript": "ENST00000921618.1",
"protein_id": "ENSP00000591677.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 312,
"cds_start": 641,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921618.1"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.641A>T",
"hgvs_p": "p.Lys214Ile",
"transcript": "XM_011510308.2",
"protein_id": "XP_011508610.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 402,
"cds_start": 641,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510308.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
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"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"hgvs_c": "c.584+1018A>T",
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"transcript": "ENST00000852339.1",
"protein_id": "ENSP00000522398.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852339.1"
}
],
"gene_symbol": "PDIA6",
"gene_hgnc_id": 30168,
"dbsnp": "rs4807",
"frequency_reference_population": 6.840722e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84072e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6675785779953003,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": 0.5585,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.148,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001282704.2",
"gene_symbol": "PDIA6",
"hgnc_id": 30168,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.797A>T",
"hgvs_p": "p.Lys266Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}