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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: 10-12149934-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=12149934&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 12149934,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000298428.14",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Ala145Ala",
"transcript": "NM_018144.4",
"protein_id": "NP_060614.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 476,
"cds_start": 435,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": "ENST00000298428.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Ala145Ala",
"transcript": "ENST00000298428.14",
"protein_id": "ENSP00000298428.9",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 476,
"cds_start": 435,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": "NM_018144.4",
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "n.435C>T",
"hgvs_p": null,
"transcript": "ENST00000475268.5",
"protein_id": "ENSP00000436749.1",
"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": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Ala123Ala",
"transcript": "NM_001142628.1",
"protein_id": "NP_001136100.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 454,
"cds_start": 369,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Ala123Ala",
"transcript": "ENST00000379033.7",
"protein_id": "ENSP00000368319.3",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 454,
"cds_start": 369,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Ala145Ala",
"transcript": "NM_001142627.3",
"protein_id": "NP_001136099.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 437,
"cds_start": 435,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Ala145Ala",
"transcript": "ENST00000304267.12",
"protein_id": "ENSP00000302048.8",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 437,
"cds_start": 435,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Ala145Ala",
"transcript": "ENST00000379020.8",
"protein_id": "ENSP00000368306.3",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 410,
"cds_start": 435,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Ala26Ala",
"transcript": "ENST00000419021.1",
"protein_id": "ENSP00000402124.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 227,
"cds_start": 78,
"cds_end": null,
"cds_length": 684,
"cdna_start": 79,
"cdna_end": null,
"cdna_length": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Ala145Ala",
"transcript": "ENST00000379017.7",
"protein_id": "ENSP00000368302.3",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 168,
"cds_start": 435,
"cds_end": null,
"cds_length": 507,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Ala145Ala",
"transcript": "ENST00000379051.5",
"protein_id": "ENSP00000368339.1",
"transcript_support_level": 3,
"aa_start": 145,
"aa_end": null,
"aa_length": 159,
"cds_start": 435,
"cds_end": null,
"cds_length": 480,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Ala90Ala",
"transcript": "ENST00000418772.1",
"protein_id": "ENSP00000393214.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 143,
"cds_start": 270,
"cds_end": null,
"cds_length": 433,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 434,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "n.435C>T",
"hgvs_p": null,
"transcript": "ENST00000472221.5",
"protein_id": "ENSP00000436294.1",
"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": 850,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "n.657C>T",
"hgvs_p": null,
"transcript": "ENST00000495368.1",
"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": 2311,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "n.546C>T",
"hgvs_p": null,
"transcript": "NR_024576.3",
"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": 2197,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "n.679C>T",
"hgvs_p": null,
"transcript": "NR_024577.3",
"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": 2330,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "c.352+208C>T",
"hgvs_p": null,
"transcript": "ENST00000441368.5",
"protein_id": "ENSP00000404959.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"hgvs_c": "c.*197C>T",
"hgvs_p": null,
"transcript": "ENST00000457034.1",
"protein_id": "ENSP00000401731.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": -4,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SEC61A2",
"gene_hgnc_id": 17702,
"dbsnp": "rs10466280",
"frequency_reference_population": 0.41923478,
"hom_count_reference_population": 143413,
"allele_count_reference_population": 674859,
"gnomad_exomes_af": 0.419248,
"gnomad_genomes_af": 0.419112,
"gnomad_exomes_ac": 611180,
"gnomad_genomes_ac": 63679,
"gnomad_exomes_homalt": 130057,
"gnomad_genomes_homalt": 13356,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.019999999552965164,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.108,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000298428.14",
"gene_symbol": "SEC61A2",
"hgnc_id": 17702,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Ala145Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}