← Back to variant description
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: 22-19915767-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19915767&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19915767,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000400521.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Glu176Gln",
"transcript": "NM_006440.5",
"protein_id": "NP_006431.2",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 524,
"cds_start": 526,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": "ENST00000400521.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Glu176Gln",
"transcript": "ENST00000400521.7",
"protein_id": "ENSP00000383365.1",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 524,
"cds_start": 526,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": "NM_006440.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Glu175Gln",
"transcript": "ENST00000400519.6",
"protein_id": "ENSP00000383363.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 523,
"cds_start": 523,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Glu146Gln",
"transcript": "ENST00000400518.5",
"protein_id": "ENSP00000383362.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 494,
"cds_start": 436,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.238G>C",
"hgvs_p": "p.Glu80Gln",
"transcript": "ENST00000542719.6",
"protein_id": "ENSP00000485128.2",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 428,
"cds_start": 238,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Glu176Gln",
"transcript": "ENST00000334363.14",
"protein_id": "ENSP00000334451.9",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 338,
"cds_start": 526,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "ENST00000491939.6",
"protein_id": "ENSP00000485543.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 306,
"cds_start": 430,
"cds_end": null,
"cds_length": 921,
"cdna_start": 516,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.600G>C",
"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": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Glu175Gln",
"transcript": "NM_001352300.2",
"protein_id": "NP_001339229.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 523,
"cds_start": 523,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Glu153Gln",
"transcript": "ENST00000400525.6",
"protein_id": "ENSP00000383369.3",
"transcript_support_level": 5,
"aa_start": 153,
"aa_end": null,
"aa_length": 501,
"cds_start": 457,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Glu146Gln",
"transcript": "NM_001352301.2",
"protein_id": "NP_001339230.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 494,
"cds_start": 436,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.238G>C",
"hgvs_p": "p.Glu80Gln",
"transcript": "NM_001352302.2",
"protein_id": "NP_001339231.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 428,
"cds_start": 238,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Glu176Gln",
"transcript": "NM_001282512.3",
"protein_id": "NP_001269441.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 338,
"cds_start": 526,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "NM_001352303.2",
"protein_id": "NP_001339232.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 306,
"cds_start": 430,
"cds_end": null,
"cds_length": 921,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Glu8Gln",
"transcript": "ENST00000475995.3",
"protein_id": "ENSP00000485290.2",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 170,
"cds_start": 22,
"cds_end": null,
"cds_length": 513,
"cdna_start": 23,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.71G>C",
"hgvs_p": null,
"transcript": "ENST00000471835.1",
"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": 326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.469G>C",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.156G>C",
"hgvs_p": null,
"transcript": "ENST00000484672.5",
"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": 429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_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": "n.531G>C",
"hgvs_p": null,
"transcript": "ENST00000496729.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.112G>C",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.484G>C",
"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": "rs61736929",
"frequency_reference_population": 0.004075119,
"hom_count_reference_population": 252,
"allele_count_reference_population": 6578,
"gnomad_exomes_af": 0.0022095,
"gnomad_genomes_af": 0.0219806,
"gnomad_exomes_ac": 3230,
"gnomad_genomes_ac": 3348,
"gnomad_exomes_homalt": 128,
"gnomad_genomes_homalt": 124,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0019516944885253906,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6439999938011169,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.101,
"revel_prediction": "Benign",
"alphamissense_score": 0.1508,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.59,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.87526128844368,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000400521.7",
"gene_symbol": "TXNRD2",
"hgnc_id": 18155,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Glu176Gln"
}
],
"clinvar_disease": "Cardiovascular phenotype,Primary dilated cardiomyopathy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|Primary dilated cardiomyopathy|Cardiovascular phenotype|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}