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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: 22-19895496-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19895496&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19895496,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000400521.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.860T>G",
"hgvs_p": "p.Leu287Arg",
"transcript": "NM_006440.5",
"protein_id": "NP_006431.2",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 524,
"cds_start": 860,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": "ENST00000400521.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.860T>G",
"hgvs_p": "p.Leu287Arg",
"transcript": "ENST00000400521.7",
"protein_id": "ENSP00000383365.1",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 524,
"cds_start": 860,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": "NM_006440.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.857T>G",
"hgvs_p": "p.Leu286Arg",
"transcript": "ENST00000400519.6",
"protein_id": "ENSP00000383363.1",
"transcript_support_level": 1,
"aa_start": 286,
"aa_end": null,
"aa_length": 523,
"cds_start": 857,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.770T>G",
"hgvs_p": "p.Leu257Arg",
"transcript": "ENST00000400518.5",
"protein_id": "ENSP00000383362.1",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 494,
"cds_start": 770,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.572T>G",
"hgvs_p": "p.Leu191Arg",
"transcript": "ENST00000542719.6",
"protein_id": "ENSP00000485128.2",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 428,
"cds_start": 572,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.860T>G",
"hgvs_p": "p.Leu287Arg",
"transcript": "ENST00000334363.14",
"protein_id": "ENSP00000334451.9",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 338,
"cds_start": 860,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.764T>G",
"hgvs_p": "p.Leu255Arg",
"transcript": "ENST00000491939.6",
"protein_id": "ENSP00000485543.1",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 306,
"cds_start": 764,
"cds_end": null,
"cds_length": 921,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.934T>G",
"hgvs_p": null,
"transcript": "ENST00000494454.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.857T>G",
"hgvs_p": "p.Leu286Arg",
"transcript": "NM_001352300.2",
"protein_id": "NP_001339229.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 523,
"cds_start": 857,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.791T>G",
"hgvs_p": "p.Leu264Arg",
"transcript": "ENST00000400525.6",
"protein_id": "ENSP00000383369.3",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 501,
"cds_start": 791,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.770T>G",
"hgvs_p": "p.Leu257Arg",
"transcript": "NM_001352301.2",
"protein_id": "NP_001339230.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 494,
"cds_start": 770,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.572T>G",
"hgvs_p": "p.Leu191Arg",
"transcript": "NM_001352302.2",
"protein_id": "NP_001339231.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 428,
"cds_start": 572,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.860T>G",
"hgvs_p": "p.Leu287Arg",
"transcript": "NM_001282512.3",
"protein_id": "NP_001269441.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 338,
"cds_start": 860,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.764T>G",
"hgvs_p": "p.Leu255Arg",
"transcript": "NM_001352303.2",
"protein_id": "NP_001339232.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 306,
"cds_start": 764,
"cds_end": null,
"cds_length": 921,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.356T>G",
"hgvs_p": "p.Leu119Arg",
"transcript": "ENST00000475995.3",
"protein_id": "ENSP00000485290.2",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 170,
"cds_start": 356,
"cds_end": null,
"cds_length": 513,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.803T>G",
"hgvs_p": null,
"transcript": "ENST00000474308.5",
"protein_id": "ENSP00000485665.1",
"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": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.89T>G",
"hgvs_p": null,
"transcript": "ENST00000634537.1",
"protein_id": "ENSP00000489208.1",
"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": 1086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.446T>G",
"hgvs_p": null,
"transcript": "ENST00000635155.1",
"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": 858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.818T>G",
"hgvs_p": null,
"transcript": "NR_147957.2",
"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": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"dbsnp": "rs989125451",
"frequency_reference_population": 0.000004789141,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478914,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5157530903816223,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.253,
"revel_prediction": "Benign",
"alphamissense_score": 0.1676,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.362,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000400521.7",
"gene_symbol": "TXNRD2",
"hgnc_id": 18155,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.860T>G",
"hgvs_p": "p.Leu287Arg"
}
],
"clinvar_disease": "Cardiovascular phenotype,Primary dilated cardiomyopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Primary dilated cardiomyopathy|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}