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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: 2-135907342-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=135907342&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 135907342,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001349.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.1480C>A",
"hgvs_p": "p.Arg494Ser",
"transcript": "NM_001349.4",
"protein_id": "NP_001340.2",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 501,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264161.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.1480C>A",
"hgvs_p": "p.Arg494Ser",
"transcript": "ENST00000264161.9",
"protein_id": "ENSP00000264161.4",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 501,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001349.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264161.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.1474C>A",
"hgvs_p": "p.Arg492Ser",
"transcript": "ENST00000952144.1",
"protein_id": "ENSP00000622203.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 499,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952144.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.1468C>A",
"hgvs_p": "p.Arg490Ser",
"transcript": "ENST00000952145.1",
"protein_id": "ENSP00000622204.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 497,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952145.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.1438C>A",
"hgvs_p": "p.Arg480Ser",
"transcript": "ENST00000952147.1",
"protein_id": "ENSP00000622206.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 487,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952147.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.1420C>A",
"hgvs_p": "p.Arg474Ser",
"transcript": "ENST00000888460.1",
"protein_id": "ENSP00000558519.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 481,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888460.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.1387C>A",
"hgvs_p": "p.Arg463Ser",
"transcript": "ENST00000888461.1",
"protein_id": "ENSP00000558520.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 470,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888461.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.1345C>A",
"hgvs_p": "p.Arg449Ser",
"transcript": "ENST00000952146.1",
"protein_id": "ENSP00000622205.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 456,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952146.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.1339C>A",
"hgvs_p": "p.Arg447Ser",
"transcript": "ENST00000939648.1",
"protein_id": "ENSP00000609707.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 454,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939648.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.1333C>A",
"hgvs_p": "p.Arg445Ser",
"transcript": "ENST00000888462.1",
"protein_id": "ENSP00000558521.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 452,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888462.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.1180C>A",
"hgvs_p": "p.Arg394Ser",
"transcript": "NM_001293312.1",
"protein_id": "NP_001280241.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 401,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293312.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.541C>A",
"hgvs_p": "p.Arg181Ser",
"transcript": "ENST00000422708.3",
"protein_id": "ENSP00000387508.1",
"transcript_support_level": 2,
"aa_start": 181,
"aa_end": null,
"aa_length": 188,
"cds_start": 541,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422708.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "n.374C>A",
"hgvs_p": null,
"transcript": "ENST00000478212.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478212.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "n.729C>A",
"hgvs_p": null,
"transcript": "ENST00000489964.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489964.5"
}
],
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"dbsnp": "rs147077598",
"frequency_reference_population": 6.9568506e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.95685e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9763720035552979,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.923,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9984,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.551,
"phylop100way_prediction": "Uncertain_significance",
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001349.4",
"gene_symbol": "DARS1",
"hgnc_id": 2678,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1480C>A",
"hgvs_p": "p.Arg494Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}