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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: 6-131576666-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=131576666&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 131576666,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000368087.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Arg21Gly",
"transcript": "NM_000045.4",
"protein_id": "NP_000036.2",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 322,
"cds_start": 61,
"cds_end": null,
"cds_length": 969,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": "ENST00000368087.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Arg21Gly",
"transcript": "ENST00000368087.8",
"protein_id": "ENSP00000357066.3",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 322,
"cds_start": 61,
"cds_end": null,
"cds_length": 969,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": "NM_000045.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Arg21Gly",
"transcript": "ENST00000356962.2",
"protein_id": "ENSP00000349446.2",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 330,
"cds_start": 61,
"cds_end": null,
"cds_length": 993,
"cdna_start": 119,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.4096-2371G>C",
"hgvs_p": null,
"transcript": "ENST00000354577.8",
"protein_id": "ENSP00000346588.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1365,
"cds_start": -4,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Arg21Gly",
"transcript": "NM_001244438.2",
"protein_id": "NP_001231367.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 330,
"cds_start": 61,
"cds_end": null,
"cds_length": 993,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Arg21Gly",
"transcript": "NM_001369020.1",
"protein_id": "NP_001355949.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 237,
"cds_start": 61,
"cds_end": null,
"cds_length": 714,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Arg21Gly",
"transcript": "ENST00000673427.1",
"protein_id": "ENSP00000500160.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 237,
"cds_start": 61,
"cds_end": null,
"cds_length": 714,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 1192,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "n.33C>G",
"hgvs_p": null,
"transcript": "ENST00000484820.1",
"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": 410,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "n.102C>G",
"hgvs_p": null,
"transcript": "ENST00000498260.1",
"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": 726,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "n.308C>G",
"hgvs_p": null,
"transcript": "ENST00000672052.1",
"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": 597,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "n.80C>G",
"hgvs_p": null,
"transcript": "ENST00000673234.1",
"protein_id": "ENSP00000499885.1",
"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": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.4096-2371G>C",
"hgvs_p": null,
"transcript": "NM_015979.4",
"protein_id": "NP_057063.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1365,
"cds_start": -4,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.4078-2371G>C",
"hgvs_p": null,
"transcript": "NM_001270521.2",
"protein_id": "NP_001257450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1359,
"cds_start": -4,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "c.77-2445C>G",
"hgvs_p": null,
"transcript": "ENST00000672233.1",
"protein_id": "ENSP00000499826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "n.115-2445C>G",
"hgvs_p": null,
"transcript": "ENST00000275196.5",
"protein_id": null,
"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": 693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "n.147-2445C>G",
"hgvs_p": null,
"transcript": "ENST00000469293.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"hgvs_c": "n.115-2445C>G",
"hgvs_p": null,
"transcript": "NR_160934.1",
"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": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARG1",
"gene_hgnc_id": 663,
"dbsnp": "rs104893944",
"frequency_reference_population": 6.8423884e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84239e-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": 0.9380180835723877,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.734,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5308,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.794,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000368087.8",
"gene_symbol": "ARG1",
"hgnc_id": 663,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Arg21Gly"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015979.4",
"gene_symbol": "MED23",
"hgnc_id": 2372,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4096-2371G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Arginase deficiency,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Arginase deficiency|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}