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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: 6-5613259-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=5613259&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "FARS2",
"hgnc_id": 21062,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_006567.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.66,
"chr": "6",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Combined oxidative phosphorylation defect type 14,FARS2-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6600000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_006567.5",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000274680.9",
"protein_coding": true,
"protein_id": "NP_006558.1",
"strand": true,
"transcript": "NM_006567.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000274680.9",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006567.5",
"protein_coding": true,
"protein_id": "ENSP00000274680.4",
"strand": true,
"transcript": "ENST00000274680.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000324331.10",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000316335.5",
"strand": true,
"transcript": "ENST00000324331.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001318872.2",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305801.1",
"strand": true,
"transcript": "NM_001318872.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2137,
"cdna_start": 1783,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001374875.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361804.1",
"strand": true,
"transcript": "NM_001374875.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001374876.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361805.1",
"strand": true,
"transcript": "NM_001374876.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 1847,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001374877.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361806.1",
"strand": true,
"transcript": "NM_001374877.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1916,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001374878.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361807.1",
"strand": true,
"transcript": "NM_001374878.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001374879.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361808.1",
"strand": true,
"transcript": "NM_001374879.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001375257.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362186.1",
"strand": true,
"transcript": "NM_001375257.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 2309,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897566.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567625.1",
"strand": true,
"transcript": "ENST00000897566.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897567.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567626.1",
"strand": true,
"transcript": "ENST00000897567.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1618,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897568.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567627.1",
"strand": true,
"transcript": "ENST00000897568.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897570.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567629.1",
"strand": true,
"transcript": "ENST00000897570.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1687,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897571.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567630.1",
"strand": true,
"transcript": "ENST00000897571.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897572.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567631.1",
"strand": true,
"transcript": "ENST00000897572.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 1472,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000897573.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567632.1",
"strand": true,
"transcript": "ENST00000897573.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1691,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897574.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567633.1",
"strand": true,
"transcript": "ENST00000897574.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1729,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897575.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567634.1",
"strand": true,
"transcript": "ENST00000897575.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897576.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567635.1",
"strand": true,
"transcript": "ENST00000897576.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 3002,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000897577.1",
"gene_hgnc_id": 21062,
"gene_symbol": "FARS2",
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"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Combined oxidative phosphorylation defect type 14|FARS2-related disorder|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.199,
"pos": 5613259,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006567.5"
}
]
}