← Back to variant description
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: 2-216148178-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=216148178&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 216148178,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_021141.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1572A>G",
"hgvs_p": "p.Thr524Thr",
"transcript": "NM_021141.4",
"protein_id": "NP_066964.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 732,
"cds_start": 1572,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392132.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021141.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1572A>G",
"hgvs_p": "p.Thr524Thr",
"transcript": "ENST00000392132.7",
"protein_id": "ENSP00000375977.2",
"transcript_support_level": 1,
"aa_start": 524,
"aa_end": null,
"aa_length": 732,
"cds_start": 1572,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "n.2114A>G",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460284.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1572A>G",
"hgvs_p": "p.Thr524Thr",
"transcript": "ENST00000947464.1",
"protein_id": "ENSP00000617523.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 754,
"cds_start": 1572,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947464.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1572A>G",
"hgvs_p": "p.Thr524Thr",
"transcript": "ENST00000939185.1",
"protein_id": "ENSP00000609244.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 740,
"cds_start": 1572,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939185.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1596A>G",
"hgvs_p": "p.Thr532Thr",
"transcript": "ENST00000947463.1",
"protein_id": "ENSP00000617522.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 740,
"cds_start": 1596,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947463.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1572A>G",
"hgvs_p": "p.Thr524Thr",
"transcript": "ENST00000392133.7",
"protein_id": "ENSP00000375978.3",
"transcript_support_level": 5,
"aa_start": 524,
"aa_end": null,
"aa_length": 732,
"cds_start": 1572,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392133.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1572A>G",
"hgvs_p": "p.Thr524Thr",
"transcript": "ENST00000939180.1",
"protein_id": "ENSP00000609239.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 732,
"cds_start": 1572,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939180.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1572A>G",
"hgvs_p": "p.Thr524Thr",
"transcript": "ENST00000939184.1",
"protein_id": "ENSP00000609243.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 732,
"cds_start": 1572,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939184.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1566A>G",
"hgvs_p": "p.Thr522Thr",
"transcript": "ENST00000939181.1",
"protein_id": "ENSP00000609240.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 730,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939181.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1563A>G",
"hgvs_p": "p.Thr521Thr",
"transcript": "ENST00000893695.1",
"protein_id": "ENSP00000563754.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 729,
"cds_start": 1563,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893695.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1560A>G",
"hgvs_p": "p.Thr520Thr",
"transcript": "ENST00000939183.1",
"protein_id": "ENSP00000609242.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 728,
"cds_start": 1560,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939183.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1551A>G",
"hgvs_p": "p.Thr517Thr",
"transcript": "ENST00000939182.1",
"protein_id": "ENSP00000609241.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 725,
"cds_start": 1551,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939182.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1572A>G",
"hgvs_p": "p.Thr524Thr",
"transcript": "ENST00000893697.1",
"protein_id": "ENSP00000563756.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 724,
"cds_start": 1572,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893697.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1476A>G",
"hgvs_p": "p.Thr492Thr",
"transcript": "ENST00000947465.1",
"protein_id": "ENSP00000617524.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 700,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947465.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Thr486Thr",
"transcript": "ENST00000893694.1",
"protein_id": "ENSP00000563753.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 694,
"cds_start": 1458,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893694.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1449A>G",
"hgvs_p": "p.Thr483Thr",
"transcript": "ENST00000947462.1",
"protein_id": "ENSP00000617521.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 691,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947462.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1380A>G",
"hgvs_p": "p.Thr460Thr",
"transcript": "ENST00000893696.1",
"protein_id": "ENSP00000563755.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 668,
"cds_start": 1380,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893696.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1572A>G",
"hgvs_p": "p.Thr524Thr",
"transcript": "ENST00000893692.1",
"protein_id": "ENSP00000563751.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 663,
"cds_start": 1572,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893692.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1257A>G",
"hgvs_p": "p.Thr419Thr",
"transcript": "ENST00000939186.1",
"protein_id": "ENSP00000609245.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 627,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.77-53A>G",
"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": null,
"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+38721A>G",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893698.1"
}
],
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"dbsnp": "rs207906",
"frequency_reference_population": 0.876104,
"hom_count_reference_population": 619911,
"allele_count_reference_population": 1413939,
"gnomad_exomes_af": 0.876122,
"gnomad_genomes_af": 0.875934,
"gnomad_exomes_ac": 1280592,
"gnomad_genomes_ac": 133347,
"gnomad_exomes_homalt": 561437,
"gnomad_genomes_homalt": 58474,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.335,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_021141.4",
"gene_symbol": "XRCC5",
"hgnc_id": 12833,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1572A>G",
"hgvs_p": "p.Thr524Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}