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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: 11-612770-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=612770&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 612770,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000525445.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1387G>C",
"hgvs_p": "p.Glu463Gln",
"transcript": "NM_001572.5",
"protein_id": "NP_001563.2",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 503,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": "ENST00000525445.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1387G>C",
"hgvs_p": "p.Glu463Gln",
"transcript": "ENST00000525445.6",
"protein_id": "ENSP00000434009.2",
"transcript_support_level": 5,
"aa_start": 463,
"aa_end": null,
"aa_length": 503,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": "NM_001572.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1426G>C",
"hgvs_p": "p.Glu476Gln",
"transcript": "ENST00000397566.5",
"protein_id": "ENSP00000380697.1",
"transcript_support_level": 1,
"aa_start": 476,
"aa_end": null,
"aa_length": 516,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1339G>C",
"hgvs_p": "p.Glu447Gln",
"transcript": "ENST00000397570.5",
"protein_id": "ENSP00000380700.2",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 487,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1300G>C",
"hgvs_p": "p.Glu434Gln",
"transcript": "ENST00000348655.11",
"protein_id": "ENSP00000331803.9",
"transcript_support_level": 1,
"aa_start": 434,
"aa_end": null,
"aa_length": 474,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 1807,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*666G>C",
"hgvs_p": null,
"transcript": "ENST00000469048.6",
"protein_id": "ENSP00000434607.1",
"transcript_support_level": 1,
"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": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*666G>C",
"hgvs_p": null,
"transcript": "ENST00000469048.6",
"protein_id": "ENSP00000434607.1",
"transcript_support_level": 1,
"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": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1426G>C",
"hgvs_p": "p.Glu476Gln",
"transcript": "NM_004031.4",
"protein_id": "NP_004022.2",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 516,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1426G>C",
"hgvs_p": "p.Glu476Gln",
"transcript": "ENST00000330243.9",
"protein_id": "ENSP00000329411.5",
"transcript_support_level": 5,
"aa_start": 476,
"aa_end": null,
"aa_length": 516,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1813,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1423G>C",
"hgvs_p": "p.Glu475Gln",
"transcript": "NM_001440440.1",
"protein_id": "NP_001427369.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 515,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1384G>C",
"hgvs_p": "p.Glu462Gln",
"transcript": "NM_001440442.1",
"protein_id": "NP_001427371.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 502,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1339G>C",
"hgvs_p": "p.Glu447Gln",
"transcript": "NM_001440444.1",
"protein_id": "NP_001427373.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 487,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1300G>C",
"hgvs_p": "p.Glu434Gln",
"transcript": "NM_004029.4",
"protein_id": "NP_004020.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 474,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1297G>C",
"hgvs_p": "p.Glu433Gln",
"transcript": "NM_001440445.1",
"protein_id": "NP_001427374.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 473,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Glu339Gln",
"transcript": "NM_001440446.1",
"protein_id": "NP_001427375.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 379,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.508G>C",
"hgvs_p": "p.Glu170Gln",
"transcript": "XM_017017674.1",
"protein_id": "XP_016873163.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 210,
"cds_start": 508,
"cds_end": null,
"cds_length": 633,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 850,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*1169G>C",
"hgvs_p": null,
"transcript": "ENST00000528413.6",
"protein_id": "ENSP00000497888.1",
"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": 1554,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.624G>C",
"hgvs_p": null,
"transcript": "ENST00000531912.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 806,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*513G>C",
"hgvs_p": null,
"transcript": "ENST00000532326.5",
"protein_id": "ENSP00000436696.1",
"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": 1604,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*751G>C",
"hgvs_p": null,
"transcript": "ENST00000533182.5",
"protein_id": "ENSP00000433903.1",
"transcript_support_level": 2,
"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": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*1169G>C",
"hgvs_p": null,
"transcript": "ENST00000528413.6",
"protein_id": "ENSP00000497888.1",
"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": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*513G>C",
"hgvs_p": null,
"transcript": "ENST00000532326.5",
"protein_id": "ENSP00000436696.1",
"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": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*751G>C",
"hgvs_p": null,
"transcript": "ENST00000533182.5",
"protein_id": "ENSP00000433903.1",
"transcript_support_level": 2,
"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": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"dbsnp": "rs375003348",
"frequency_reference_population": 0.0000049640107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.0000041112,
"gnomad_genomes_af": 0.000013143,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8408324718475342,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.604,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1883,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.356,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000525445.6",
"gene_symbol": "IRF7",
"hgnc_id": 6122,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1387G>C",
"hgvs_p": "p.Glu463Gln"
}
],
"clinvar_disease": "Immunodeficiency 39",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Immunodeficiency 39",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}