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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: 19-45368706-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45368706&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45368706,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000391945.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Glu95Gly",
"transcript": "NM_000400.4",
"protein_id": "NP_000391.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 760,
"cds_start": 284,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": "ENST00000391945.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Glu95Gly",
"transcript": "ENST00000391945.10",
"protein_id": "ENSP00000375809.4",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 760,
"cds_start": 284,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": "NM_000400.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Glu95Gly",
"transcript": "ENST00000391944.8",
"protein_id": "ENSP00000375808.4",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 829,
"cds_start": 284,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Glu71Gly",
"transcript": "ENST00000391941.6",
"protein_id": "ENSP00000375805.2",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 705,
"cds_start": 212,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Glu71Gly",
"transcript": "ENST00000485403.6",
"protein_id": "ENSP00000431229.2",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 405,
"cds_start": 212,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Glu71Gly",
"transcript": "NM_001440355.1",
"protein_id": "NP_001427284.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 736,
"cds_start": 212,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Glu69Gly",
"transcript": "NM_001440356.1",
"protein_id": "NP_001427285.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 734,
"cds_start": 206,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Glu54Gly",
"transcript": "NM_001440357.1",
"protein_id": "NP_001427286.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 719,
"cds_start": 161,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Glu54Gly",
"transcript": "ENST00000684407.1",
"protein_id": "ENSP00000507775.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 719,
"cds_start": 161,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Glu71Gly",
"transcript": "NM_001130867.2",
"protein_id": "NP_001124339.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 405,
"cds_start": 212,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Glu71Gly",
"transcript": "ENST00000586131.6",
"protein_id": "ENSP00000464887.1",
"transcript_support_level": 3,
"aa_start": 71,
"aa_end": null,
"aa_length": 291,
"cds_start": 212,
"cds_end": null,
"cds_length": 877,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Glu45Gly",
"transcript": "ENST00000586856.1",
"protein_id": "ENSP00000466998.1",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 108,
"cds_start": 134,
"cds_end": null,
"cds_length": 327,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.276A>G",
"hgvs_p": null,
"transcript": "ENST00000586441.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.279A>G",
"hgvs_p": null,
"transcript": "ENST00000586737.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.284A>G",
"hgvs_p": null,
"transcript": "ENST00000591309.5",
"protein_id": "ENSP00000465207.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.381A>G",
"hgvs_p": null,
"transcript": "ENST00000646507.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3119,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.284A>G",
"hgvs_p": null,
"transcript": "ENST00000682414.1",
"protein_id": "ENSP00000507019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.313A>G",
"hgvs_p": null,
"transcript": "ENST00000682508.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.284A>G",
"hgvs_p": null,
"transcript": "ENST00000684218.1",
"protein_id": "ENSP00000507804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.284A>G",
"hgvs_p": null,
"transcript": "ENST00000684458.1",
"protein_id": "ENSP00000508260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.317A>G",
"hgvs_p": null,
"transcript": "NR_199645.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.317A>G",
"hgvs_p": null,
"transcript": "NR_199646.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"hgvs_c": "n.239A>G",
"hgvs_p": null,
"transcript": "NR_199647.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERCC2",
"gene_hgnc_id": 3434,
"dbsnp": "rs571718677",
"frequency_reference_population": 0.0005371594,
"hom_count_reference_population": 15,
"allele_count_reference_population": 867,
"gnomad_exomes_af": 0.00055962,
"gnomad_genomes_af": 0.000321649,
"gnomad_exomes_ac": 818,
"gnomad_genomes_ac": 49,
"gnomad_exomes_homalt": 15,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00998014211654663,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.317,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.106,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.144,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000391945.10",
"gene_symbol": "ERCC2",
"hgnc_id": 3434,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Glu95Gly"
}
],
"clinvar_disease": " group D, photosensitive,Cerebrooculofacioskeletal syndrome 2,Trichothiodystrophy 1,Xeroderma pigmentosum,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1 O:1",
"phenotype_combined": "not specified|not provided|Xeroderma pigmentosum|Xeroderma pigmentosum, group D;Trichothiodystrophy 1, photosensitive;Cerebrooculofacioskeletal syndrome 2",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}