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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: 17-74863166-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74863166&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74863166,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000293195.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Gln419*",
"transcript": "NM_024417.5",
"protein_id": "NP_077728.3",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 491,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": "ENST00000293195.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Gln419*",
"transcript": "ENST00000293195.10",
"protein_id": "ENSP00000293195.5",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 491,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": "NM_024417.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Gln425*",
"transcript": "ENST00000581530.5",
"protein_id": "ENSP00000462972.1",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 497,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 1827,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.1943C>T",
"hgvs_p": null,
"transcript": "ENST00000578473.5",
"protein_id": null,
"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": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Gln462*",
"transcript": "NM_001258012.4",
"protein_id": "NP_001244941.2",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 534,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Gln462*",
"transcript": "ENST00000442102.6",
"protein_id": "ENSP00000416515.2",
"transcript_support_level": 2,
"aa_start": 462,
"aa_end": null,
"aa_length": 534,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1348C>T",
"hgvs_p": "p.Gln450*",
"transcript": "NM_001258013.4",
"protein_id": "NP_001244942.2",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 522,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1348C>T",
"hgvs_p": "p.Gln450*",
"transcript": "ENST00000413947.6",
"protein_id": "ENSP00000408595.2",
"transcript_support_level": 2,
"aa_start": 450,
"aa_end": null,
"aa_length": 522,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Gln425*",
"transcript": "NM_004110.6",
"protein_id": "NP_004101.3",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 497,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Gln411*",
"transcript": "NM_001258014.4",
"protein_id": "NP_001244943.2",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 483,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Gln411*",
"transcript": "ENST00000582944.5",
"protein_id": "ENSP00000462183.1",
"transcript_support_level": 2,
"aa_start": 411,
"aa_end": null,
"aa_length": 483,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Gln391*",
"transcript": "ENST00000583917.5",
"protein_id": "ENSP00000463940.1",
"transcript_support_level": 5,
"aa_start": 391,
"aa_end": null,
"aa_length": 463,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 1762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Gln379*",
"transcript": "NM_001258015.3",
"protein_id": "NP_001244944.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 451,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Gln379*",
"transcript": "ENST00000420580.6",
"protein_id": "ENSP00000414172.2",
"transcript_support_level": 2,
"aa_start": 379,
"aa_end": null,
"aa_length": 451,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Gln367*",
"transcript": "NM_001258016.3",
"protein_id": "NP_001244945.2",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 439,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Gln367*",
"transcript": "ENST00000544854.5",
"protein_id": "ENSP00000445432.1",
"transcript_support_level": 2,
"aa_start": 367,
"aa_end": null,
"aa_length": 439,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 1827,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*1214C>T",
"hgvs_p": null,
"transcript": "ENST00000577509.5",
"protein_id": "ENSP00000462083.1",
"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": 1912,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*1447C>T",
"hgvs_p": null,
"transcript": "ENST00000579482.5",
"protein_id": "ENSP00000461993.1",
"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": 2157,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*720C>T",
"hgvs_p": null,
"transcript": "ENST00000583881.5",
"protein_id": "ENSP00000464670.1",
"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": 1561,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.1405C>T",
"hgvs_p": null,
"transcript": "NR_047576.3",
"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": 1946,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*1214C>T",
"hgvs_p": null,
"transcript": "ENST00000577509.5",
"protein_id": "ENSP00000462083.1",
"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": 1912,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*1447C>T",
"hgvs_p": null,
"transcript": "ENST00000579482.5",
"protein_id": "ENSP00000461993.1",
"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": 2157,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.*720C>T",
"hgvs_p": null,
"transcript": "ENST00000583881.5",
"protein_id": "ENSP00000464670.1",
"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": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"dbsnp": "rs1313895172",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.286,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000293195.10",
"gene_symbol": "FDXR",
"hgnc_id": 3642,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Gln419*"
}
],
"clinvar_disease": "Auditory neuropathy-optic atrophy syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Auditory neuropathy-optic atrophy syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}