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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: 11-613297-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=613297&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 613297,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000525445.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1146A>T",
"hgvs_p": "p.Gly382Gly",
"transcript": "NM_001572.5",
"protein_id": "NP_001563.2",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 503,
"cds_start": 1146,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": "ENST00000525445.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1146A>T",
"hgvs_p": "p.Gly382Gly",
"transcript": "ENST00000525445.6",
"protein_id": "ENSP00000434009.2",
"transcript_support_level": 5,
"aa_start": 382,
"aa_end": null,
"aa_length": 503,
"cds_start": 1146,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": "NM_001572.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1185A>T",
"hgvs_p": "p.Gly395Gly",
"transcript": "ENST00000397566.5",
"protein_id": "ENSP00000380697.1",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 516,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1098A>T",
"hgvs_p": "p.Gly366Gly",
"transcript": "ENST00000397570.5",
"protein_id": "ENSP00000380700.2",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 487,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1059A>T",
"hgvs_p": "p.Gly353Gly",
"transcript": "ENST00000348655.11",
"protein_id": "ENSP00000331803.9",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 474,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1351,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*425A>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*425A>T",
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1185A>T",
"hgvs_p": "p.Gly395Gly",
"transcript": "NM_004031.4",
"protein_id": "NP_004022.2",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 516,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1185A>T",
"hgvs_p": "p.Gly395Gly",
"transcript": "ENST00000330243.9",
"protein_id": "ENSP00000329411.5",
"transcript_support_level": 5,
"aa_start": 395,
"aa_end": null,
"aa_length": 516,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1182A>T",
"hgvs_p": "p.Gly394Gly",
"transcript": "NM_001440440.1",
"protein_id": "NP_001427369.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 515,
"cds_start": 1182,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1143A>T",
"hgvs_p": "p.Gly381Gly",
"transcript": "NM_001440442.1",
"protein_id": "NP_001427371.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 502,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1098A>T",
"hgvs_p": "p.Gly366Gly",
"transcript": "NM_001440444.1",
"protein_id": "NP_001427373.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 487,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1059A>T",
"hgvs_p": "p.Gly353Gly",
"transcript": "NM_004029.4",
"protein_id": "NP_004020.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 474,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1056A>T",
"hgvs_p": "p.Gly352Gly",
"transcript": "NM_001440445.1",
"protein_id": "NP_001427374.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 473,
"cds_start": 1056,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.774A>T",
"hgvs_p": "p.Gly258Gly",
"transcript": "NM_001440446.1",
"protein_id": "NP_001427375.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 379,
"cds_start": 774,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.267A>T",
"hgvs_p": "p.Gly89Gly",
"transcript": "XM_017017674.1",
"protein_id": "XP_016873163.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 210,
"cds_start": 267,
"cds_end": null,
"cds_length": 633,
"cdna_start": 394,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*928A>T",
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.295A>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*272A>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*510A>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*928A>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*272A>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*510A>T",
"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,
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"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"dbsnp": "rs1061505",
"frequency_reference_population": 0.0000074612944,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000274587,
"gnomad_genomes_af": 0.0000527823,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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,
"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": -1.785,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000525445.6",
"gene_symbol": "IRF7",
"hgnc_id": 6122,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1146A>T",
"hgvs_p": "p.Gly382Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}