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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: 2-216141316-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=216141316&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 216141316,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_021141.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.Phe491Phe",
"transcript": "NM_021141.4",
"protein_id": "NP_066964.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 732,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": "ENST00000392132.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021141.4"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.Phe491Phe",
"transcript": "ENST00000392132.7",
"protein_id": "ENSP00000375977.2",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 732,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": "NM_021141.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392132.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "n.2015T>C",
"hgvs_p": null,
"transcript": "ENST00000460284.5",
"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": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460284.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.Phe491Phe",
"transcript": "ENST00000947464.1",
"protein_id": "ENSP00000617523.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 754,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 3392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947464.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.Phe491Phe",
"transcript": "ENST00000939185.1",
"protein_id": "ENSP00000609244.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 740,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939185.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1497T>C",
"hgvs_p": "p.Phe499Phe",
"transcript": "ENST00000947463.1",
"protein_id": "ENSP00000617522.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 740,
"cds_start": 1497,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947463.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.Phe491Phe",
"transcript": "ENST00000392133.7",
"protein_id": "ENSP00000375978.3",
"transcript_support_level": 5,
"aa_start": 491,
"aa_end": null,
"aa_length": 732,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392133.7"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.Phe491Phe",
"transcript": "ENST00000939180.1",
"protein_id": "ENSP00000609239.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 732,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939180.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.Phe491Phe",
"transcript": "ENST00000939184.1",
"protein_id": "ENSP00000609243.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 732,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939184.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1467T>C",
"hgvs_p": "p.Phe489Phe",
"transcript": "ENST00000939181.1",
"protein_id": "ENSP00000609240.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 730,
"cds_start": 1467,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939181.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1464T>C",
"hgvs_p": "p.Phe488Phe",
"transcript": "ENST00000893695.1",
"protein_id": "ENSP00000563754.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 729,
"cds_start": 1464,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893695.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1461T>C",
"hgvs_p": "p.Phe487Phe",
"transcript": "ENST00000939183.1",
"protein_id": "ENSP00000609242.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 728,
"cds_start": 1461,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939183.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1452T>C",
"hgvs_p": "p.Phe484Phe",
"transcript": "ENST00000939182.1",
"protein_id": "ENSP00000609241.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 725,
"cds_start": 1452,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939182.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.Phe491Phe",
"transcript": "ENST00000893697.1",
"protein_id": "ENSP00000563756.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 724,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893697.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1377T>C",
"hgvs_p": "p.Phe459Phe",
"transcript": "ENST00000947465.1",
"protein_id": "ENSP00000617524.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 700,
"cds_start": 1377,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947465.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1359T>C",
"hgvs_p": "p.Phe453Phe",
"transcript": "ENST00000893694.1",
"protein_id": "ENSP00000563753.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 694,
"cds_start": 1359,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893694.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1350T>C",
"hgvs_p": "p.Phe450Phe",
"transcript": "ENST00000947462.1",
"protein_id": "ENSP00000617521.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 691,
"cds_start": 1350,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 3246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947462.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Phe427Phe",
"transcript": "ENST00000893696.1",
"protein_id": "ENSP00000563755.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 668,
"cds_start": 1281,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893696.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.Phe491Phe",
"transcript": "ENST00000893692.1",
"protein_id": "ENSP00000563751.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 663,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893692.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1158T>C",
"hgvs_p": "p.Phe386Phe",
"transcript": "ENST00000939186.1",
"protein_id": "ENSP00000609245.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 627,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939186.1"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.77-6915T>C",
"hgvs_p": null,
"transcript": "ENST00000893691.1",
"protein_id": "ENSP00000563749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 216,
"cds_start": null,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893691.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.21+31859T>C",
"hgvs_p": null,
"transcript": "ENST00000893698.1",
"protein_id": "ENSP00000563757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 36,
"cds_start": null,
"cds_end": null,
"cds_length": 111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893698.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "n.607T>C",
"hgvs_p": null,
"transcript": "ENST00000471649.1",
"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": 610,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471649.1"
}
],
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"dbsnp": "rs41257924",
"frequency_reference_population": 0.0060283137,
"hom_count_reference_population": 45,
"allele_count_reference_population": 9730,
"gnomad_exomes_af": 0.00618073,
"gnomad_genomes_af": 0.00456492,
"gnomad_exomes_ac": 9035,
"gnomad_genomes_ac": 695,
"gnomad_exomes_homalt": 40,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.767,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_021141.4",
"gene_symbol": "XRCC5",
"hgnc_id": 12833,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.Phe491Phe"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}