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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: 16-70142278-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70142278&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70142278,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000288050.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Ser",
"transcript": "NM_017990.5",
"protein_id": "NP_060460.4",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 879,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 8549,
"mane_select": "ENST00000288050.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Ser",
"transcript": "ENST00000288050.9",
"protein_id": "ENSP00000288050.5",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 879,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 8549,
"mane_select": "NM_017990.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Ser",
"transcript": "ENST00000568530.5",
"protein_id": "ENSP00000457916.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 879,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 7223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Ser",
"transcript": "NM_001322117.1",
"protein_id": "NP_001309046.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 879,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2268,
"cdna_end": null,
"cdna_length": 9206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Gly354Ser",
"transcript": "NM_001322118.1",
"protein_id": "NP_001309047.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 779,
"cds_start": 1060,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 8886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Gly354Ser",
"transcript": "ENST00000398122.7",
"protein_id": "ENSP00000381190.3",
"transcript_support_level": 2,
"aa_start": 354,
"aa_end": null,
"aa_length": 779,
"cds_start": 1060,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.154G>A",
"hgvs_p": "p.Gly52Ser",
"transcript": "NM_001322119.1",
"protein_id": "NP_001309048.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 477,
"cds_start": 154,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 9003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Ser",
"transcript": "XM_005256015.3",
"protein_id": "XP_005256072.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 879,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 8439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Ser",
"transcript": "XM_005256016.4",
"protein_id": "XP_005256073.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 879,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2899,
"cdna_end": null,
"cdna_length": 9837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Ser",
"transcript": "XM_047434302.1",
"protein_id": "XP_047290258.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 879,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 3756,
"cdna_end": null,
"cdna_length": 10694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Ser",
"transcript": "XM_006721224.3",
"protein_id": "XP_006721287.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 818,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 8256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Ser",
"transcript": "XM_047434303.1",
"protein_id": "XP_047290259.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 818,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 8366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Gly374Ser",
"transcript": "XM_006721225.4",
"protein_id": "XP_006721288.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 799,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 8199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Gly374Ser",
"transcript": "XM_047434304.1",
"protein_id": "XP_047290260.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 799,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 8309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Gly374Ser",
"transcript": "XM_047434305.1",
"protein_id": "XP_047290261.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 738,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 8016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Gly374Ser",
"transcript": "XM_047434306.1",
"protein_id": "XP_047290262.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 738,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 8126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Gly374Ser",
"transcript": "XM_047434307.1",
"protein_id": "XP_047290263.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 738,
"cds_start": 1120,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2761,
"cdna_end": null,
"cdna_length": 9516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Ser",
"transcript": "XM_017023388.3",
"protein_id": "XP_016878877.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 687,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Ser",
"transcript": "XM_011523190.4",
"protein_id": "XP_011521492.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 679,
"cds_start": 1360,
"cds_end": null,
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"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Gly235Ser",
"transcript": "XM_047434308.1",
"protein_id": "XP_047290264.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 660,
"cds_start": 703,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 7723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "XM_047434309.1",
"protein_id": "XP_047290265.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 607,
"cds_start": 544,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 7679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Ser",
"transcript": "XM_047434310.1",
"protein_id": "XP_047290266.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 491,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "n.1464G>A",
"hgvs_p": null,
"transcript": "ENST00000561920.5",
"protein_id": null,
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],
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{
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"verdict": "Uncertain_significance",
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{
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}