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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: 22-19877127-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19877127&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TXNRD2",
"hgnc_id": 18155,
"hgvs_c": "c.1553C>T",
"hgvs_p": "p.Thr518Met",
"inheritance_mode": "AD,Unknown,AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_006440.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 208,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiovascular phenotype,Primary dilated cardiomyopathy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2811219096183777,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 524,
"aa_ref": "T",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1553,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_006440.5",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "c.1553C>T",
"hgvs_p": "p.Thr518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000400521.7",
"protein_coding": true,
"protein_id": "NP_006431.2",
"strand": false,
"transcript": "NM_006440.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 524,
"aa_ref": "T",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1553,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000400521.7",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "c.1553C>T",
"hgvs_p": "p.Thr518Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006440.5",
"protein_coding": true,
"protein_id": "ENSP00000383365.1",
"strand": false,
"transcript": "ENST00000400521.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 523,
"aa_ref": "T",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1550,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000400519.6",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "c.1550C>T",
"hgvs_p": "p.Thr517Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383363.1",
"strand": false,
"transcript": "ENST00000400519.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 494,
"aa_ref": "T",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2025,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1463,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000400518.5",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "c.1463C>T",
"hgvs_p": "p.Thr488Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383362.1",
"strand": false,
"transcript": "ENST00000400518.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 428,
"aa_ref": "T",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000542719.6",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "c.1265C>T",
"hgvs_p": "p.Thr422Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485128.2",
"strand": false,
"transcript": "ENST00000542719.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000487165.5",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "n.1647C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000487165.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000494454.5",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "n.1627C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000494454.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 523,
"aa_ref": "T",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3170,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1550,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001352300.2",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "c.1550C>T",
"hgvs_p": "p.Thr517Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339229.1",
"strand": false,
"transcript": "NM_001352300.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 501,
"aa_ref": "T",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000400525.6",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "c.1484C>T",
"hgvs_p": "p.Thr495Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383369.3",
"strand": false,
"transcript": "ENST00000400525.6",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 494,
"aa_ref": "T",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1463,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001352301.2",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "c.1463C>T",
"hgvs_p": "p.Thr488Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339230.1",
"strand": false,
"transcript": "NM_001352301.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 428,
"aa_ref": "T",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001352302.2",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "c.1265C>T",
"hgvs_p": "p.Thr422Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339231.1",
"strand": false,
"transcript": "NM_001352302.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 180,
"aa_ref": "T",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 850,
"cdna_start": 596,
"cds_end": null,
"cds_length": 543,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000485358.5",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Thr174Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485499.2",
"strand": false,
"transcript": "ENST00000485358.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 165,
"aa_ref": "T",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1129,
"cdna_start": 756,
"cds_end": null,
"cds_length": 498,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000462330.5",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Thr159Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485603.2",
"strand": false,
"transcript": "ENST00000462330.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "non_stop_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 810,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000462843.2",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "n.503C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485466.2",
"strand": false,
"transcript": "ENST00000462843.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000474308.5",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "n.*82C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485665.1",
"strand": false,
"transcript": "ENST00000474308.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000495655.2",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "n.1097C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000495655.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 748,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000634471.1",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "n.614C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000634471.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "non_stop_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1086,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000634537.1",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "n.782C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489208.1",
"strand": false,
"transcript": "ENST00000634537.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NR_147957.2",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "n.1489C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_147957.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000474308.5",
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"hgvs_c": "n.*82C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485665.1",
"strand": false,
"transcript": "ENST00000474308.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs372446673",
"effect": "missense_variant",
"frequency_reference_population": 0.0001299399,
"gene_hgnc_id": 18155,
"gene_symbol": "TXNRD2",
"gnomad_exomes_ac": 198,
"gnomad_exomes_af": 0.000136692,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 10,
"gnomad_genomes_af": 0.0000656918,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Primary dilated cardiomyopathy|not provided|Cardiovascular phenotype",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.077,
"pos": 19877127,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.191,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006440.5"
}
]
}