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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: 2-216138116-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=216138116&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 216138116,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021141.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1279A>C",
"hgvs_p": "p.Met427Leu",
"transcript": "NM_021141.4",
"protein_id": "NP_066964.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 732,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": "ENST00000392132.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021141.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1279A>C",
"hgvs_p": "p.Met427Leu",
"transcript": "ENST00000392132.7",
"protein_id": "ENSP00000375977.2",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 732,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1368,
"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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "n.1821A>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": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1279A>C",
"hgvs_p": "p.Met427Leu",
"transcript": "ENST00000947464.1",
"protein_id": "ENSP00000617523.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 754,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 3392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947464.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1279A>C",
"hgvs_p": "p.Met427Leu",
"transcript": "ENST00000939185.1",
"protein_id": "ENSP00000609244.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 740,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939185.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1303A>C",
"hgvs_p": "p.Met435Leu",
"transcript": "ENST00000947463.1",
"protein_id": "ENSP00000617522.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 740,
"cds_start": 1303,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947463.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1279A>C",
"hgvs_p": "p.Met427Leu",
"transcript": "ENST00000392133.7",
"protein_id": "ENSP00000375978.3",
"transcript_support_level": 5,
"aa_start": 427,
"aa_end": null,
"aa_length": 732,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392133.7"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1279A>C",
"hgvs_p": "p.Met427Leu",
"transcript": "ENST00000939180.1",
"protein_id": "ENSP00000609239.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 732,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939180.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1279A>C",
"hgvs_p": "p.Met427Leu",
"transcript": "ENST00000939184.1",
"protein_id": "ENSP00000609243.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 732,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939184.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1273A>C",
"hgvs_p": "p.Met425Leu",
"transcript": "ENST00000939181.1",
"protein_id": "ENSP00000609240.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 730,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939181.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1270A>C",
"hgvs_p": "p.Met424Leu",
"transcript": "ENST00000893695.1",
"protein_id": "ENSP00000563754.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 729,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893695.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1267A>C",
"hgvs_p": "p.Met423Leu",
"transcript": "ENST00000939183.1",
"protein_id": "ENSP00000609242.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 728,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939183.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1279A>C",
"hgvs_p": "p.Met427Leu",
"transcript": "ENST00000939182.1",
"protein_id": "ENSP00000609241.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 725,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939182.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1279A>C",
"hgvs_p": "p.Met427Leu",
"transcript": "ENST00000893697.1",
"protein_id": "ENSP00000563756.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 724,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893697.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1183A>C",
"hgvs_p": "p.Met395Leu",
"transcript": "ENST00000947465.1",
"protein_id": "ENSP00000617524.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 700,
"cds_start": 1183,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947465.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1165A>C",
"hgvs_p": "p.Met389Leu",
"transcript": "ENST00000893694.1",
"protein_id": "ENSP00000563753.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 694,
"cds_start": 1165,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893694.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1156A>C",
"hgvs_p": "p.Met386Leu",
"transcript": "ENST00000947462.1",
"protein_id": "ENSP00000617521.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 691,
"cds_start": 1156,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 3246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947462.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1087A>C",
"hgvs_p": "p.Met363Leu",
"transcript": "ENST00000893696.1",
"protein_id": "ENSP00000563755.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 668,
"cds_start": 1087,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893696.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1279A>C",
"hgvs_p": "p.Met427Leu",
"transcript": "ENST00000893692.1",
"protein_id": "ENSP00000563751.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 663,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893692.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.964A>C",
"hgvs_p": "p.Met322Leu",
"transcript": "ENST00000939186.1",
"protein_id": "ENSP00000609245.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 627,
"cds_start": 964,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1000,
"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.77-10115A>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+28659A>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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "n.413A>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": "rs1697117570",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6247060894966125,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.177,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.977,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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_021141.4",
"gene_symbol": "XRCC5",
"hgnc_id": 12833,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1279A>C",
"hgvs_p": "p.Met427Leu"
}
],
"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
}