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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: 6-5545289-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=5545289&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 5545289,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000274680.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "NM_006567.5",
"protein_id": "NP_006558.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 451,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": "ENST00000274680.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "ENST00000274680.9",
"protein_id": "ENSP00000274680.4",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 451,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": "NM_006567.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "ENST00000324331.10",
"protein_id": "ENSP00000316335.5",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 451,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "NM_001318872.2",
"protein_id": "NP_001305801.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 451,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "NM_001374875.1",
"protein_id": "NP_001361804.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 451,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1641,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "NM_001374876.1",
"protein_id": "NP_001361805.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 451,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "NM_001374877.1",
"protein_id": "NP_001361806.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 451,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "NM_001374878.1",
"protein_id": "NP_001361807.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 451,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "NM_001374879.1",
"protein_id": "NP_001361808.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 451,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "NM_001375257.1",
"protein_id": "NP_001362186.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 451,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Arg294Arg",
"transcript": "NM_001375258.1",
"protein_id": "NP_001362187.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 407,
"cds_start": 882,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Arg106Arg",
"transcript": "NM_001375259.1",
"protein_id": "NP_001362188.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 219,
"cds_start": 318,
"cds_end": null,
"cds_length": 660,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Arg106Arg",
"transcript": "NM_001375260.1",
"protein_id": "NP_001362189.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 219,
"cds_start": 318,
"cds_end": null,
"cds_length": 660,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "XM_047418086.1",
"protein_id": "XP_047274042.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 451,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "XM_011514247.4",
"protein_id": "XP_011512549.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 439,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "XM_011514248.4",
"protein_id": "XP_011512550.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 416,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg",
"transcript": "XM_011514249.3",
"protein_id": "XP_011512551.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 412,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 25431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "n.1014C>T",
"hgvs_p": null,
"transcript": "ENST00000648580.1",
"protein_id": "ENSP00000497889.1",
"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": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "n.*59C>T",
"hgvs_p": null,
"transcript": "XR_007059196.1",
"protein_id": null,
"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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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "n.*59C>T",
"hgvs_p": null,
"transcript": "XR_007059197.1",
"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": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "n.*59C>T",
"hgvs_p": null,
"transcript": "XR_007059198.1",
"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": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "n.*59C>T",
"hgvs_p": null,
"transcript": "XR_926027.4",
"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": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"dbsnp": "rs41302855",
"frequency_reference_population": 0.00007124669,
"hom_count_reference_population": 0,
"allele_count_reference_population": 115,
"gnomad_exomes_af": 0.000066356,
"gnomad_genomes_af": 0.000118189,
"gnomad_exomes_ac": 97,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"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": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.003,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000274680.9",
"gene_symbol": "FARS2",
"hgnc_id": 21062,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Arg338Arg"
}
],
"clinvar_disease": "Combined oxidative phosphorylation defect type 14,FARS2-related disorder",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Combined oxidative phosphorylation defect type 14|FARS2-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}