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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: 2-216196997-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=216196997&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 216196997,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_021141.4",
"consequences": [
{
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.2109+2011A>G",
"hgvs_p": null,
"transcript": "NM_021141.4",
"protein_id": "NP_066964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.2109+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000392132.7",
"protein_id": "ENSP00000375977.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "n.2651+2011A>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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.2175+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000947464.1",
"protein_id": "ENSP00000617523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.2133+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000939185.1",
"protein_id": "ENSP00000609244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.2133+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000947463.1",
"protein_id": "ENSP00000617522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.2109+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000392133.7",
"protein_id": "ENSP00000375978.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.2109+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000939180.1",
"protein_id": "ENSP00000609239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.2109+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000939184.1",
"protein_id": "ENSP00000609243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.2103+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000939181.1",
"protein_id": "ENSP00000609240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.2100+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000893695.1",
"protein_id": "ENSP00000563754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": null,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893695.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.2097+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000939183.1",
"protein_id": "ENSP00000609242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 728,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939183.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.2088+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000939182.1",
"protein_id": "ENSP00000609241.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 725,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000939182.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
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"hgvs_c": "c.2085+2011A>G",
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"transcript": "ENST00000893697.1",
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"biotype": "protein_coding",
"feature": "ENST00000893697.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.2013+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000947465.1",
"protein_id": "ENSP00000617524.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947465.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1995+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000893694.1",
"protein_id": "ENSP00000563753.1",
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"biotype": "protein_coding",
"feature": "ENST00000893694.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1986+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000947462.1",
"protein_id": "ENSP00000617521.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947462.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "XRCC5",
"gene_hgnc_id": 12833,
"hgvs_c": "c.1917+2011A>G",
"hgvs_p": null,
"transcript": "ENST00000893696.1",
"protein_id": "ENSP00000563755.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"feature": "ENST00000893696.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "XRCC5",
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"hgvs_c": "c.1902+2011A>G",
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"transcript": "ENST00000893692.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "XRCC5",
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"hgvs_c": "c.1794+2011A>G",
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"feature": "ENST00000939186.1"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "XRCC5",
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"hgvs_c": "c.561+2011A>G",
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"transcript": "ENST00000893691.1",
"protein_id": "ENSP00000563749.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000893691.1"
},
{
"aa_ref": null,
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"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.22-7325A>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,
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"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": "rs9288518",
"frequency_reference_population": 0.36133692,
"hom_count_reference_population": 10946,
"allele_count_reference_population": 54942,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.361337,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 54942,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 10946,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.605,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_021141.4",
"gene_symbol": "XRCC5",
"hgnc_id": 12833,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2109+2011A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}