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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: 9-133408829-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133408829&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133408829,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020385.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.1013A>G",
"hgvs_p": "p.Asp338Gly",
"transcript": "NM_020385.4",
"protein_id": "NP_065118.2",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 422,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371942.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020385.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.1013A>G",
"hgvs_p": "p.Asp338Gly",
"transcript": "ENST00000371942.8",
"protein_id": "ENSP00000361010.3",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 422,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020385.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371942.8"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Asp346Gly",
"transcript": "ENST00000903994.1",
"protein_id": "ENSP00000574053.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 430,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903994.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Asp344Gly",
"transcript": "ENST00000903993.1",
"protein_id": "ENSP00000574052.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 428,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903993.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.1013A>G",
"hgvs_p": "p.Asp338Gly",
"transcript": "ENST00000903991.1",
"protein_id": "ENSP00000574050.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903991.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.959A>G",
"hgvs_p": "p.Asp320Gly",
"transcript": "ENST00000903990.1",
"protein_id": "ENSP00000574049.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 404,
"cds_start": 959,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903990.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.Asp245Gly",
"transcript": "NM_001279351.1",
"protein_id": "NP_001266280.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 329,
"cds_start": 734,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001279351.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.602A>G",
"hgvs_p": "p.Asp201Gly",
"transcript": "NM_001279350.2",
"protein_id": "NP_001266279.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 285,
"cds_start": 602,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001279350.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Asp166Gly",
"transcript": "NM_001279349.2",
"protein_id": "NP_001266278.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 250,
"cds_start": 497,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001279349.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Asp166Gly",
"transcript": "ENST00000371935.6",
"protein_id": "ENSP00000361003.2",
"transcript_support_level": 3,
"aa_start": 166,
"aa_end": null,
"aa_length": 250,
"cds_start": 497,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371935.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Asp166Gly",
"transcript": "ENST00000454825.1",
"protein_id": "ENSP00000394229.1",
"transcript_support_level": 3,
"aa_start": 166,
"aa_end": null,
"aa_length": 232,
"cds_start": 497,
"cds_end": null,
"cds_length": 700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454825.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.602A>G",
"hgvs_p": "p.Asp201Gly",
"transcript": "XM_024447611.2",
"protein_id": "XP_024303379.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 285,
"cds_start": 602,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447611.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.602A>G",
"hgvs_p": "p.Asp201Gly",
"transcript": "XM_024447612.2",
"protein_id": "XP_024303380.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 285,
"cds_start": 602,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447612.2"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.1000-948A>G",
"hgvs_p": null,
"transcript": "ENST00000903992.1",
"protein_id": "ENSP00000574051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903992.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "n.638A>G",
"hgvs_p": null,
"transcript": "NR_103995.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_103995.2"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "n.832A>G",
"hgvs_p": null,
"transcript": "NR_103996.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_103996.2"
}
],
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"dbsnp": "rs782245774",
"frequency_reference_population": 0.00002012617,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000201262,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10720252990722656,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.124,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.379,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_020385.4",
"gene_symbol": "REXO4",
"hgnc_id": 12820,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1013A>G",
"hgvs_p": "p.Asp338Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}