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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: 13-49482961-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=49482961&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 49482961,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001320727.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Val461Met",
"transcript": "NM_001160308.3",
"protein_id": "NP_001153780.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 707,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000611815.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160308.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Val461Met",
"transcript": "ENST00000611815.2",
"protein_id": "ENSP00000482240.2",
"transcript_support_level": 5,
"aa_start": 461,
"aa_end": null,
"aa_length": 707,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001160308.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611815.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1417G>A",
"hgvs_p": "p.Val473Met",
"transcript": "ENST00000354234.8",
"protein_id": "ENSP00000346175.5",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 719,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354234.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Val461Met",
"transcript": "ENST00000317257.12",
"protein_id": "ENSP00000326477.9",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 707,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317257.12"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2-PHF11",
"gene_hgnc_id": null,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Val461Met",
"transcript": "NM_001320727.2",
"protein_id": "NP_001307656.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 825,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320727.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1417G>A",
"hgvs_p": "p.Val473Met",
"transcript": "NM_031915.3",
"protein_id": "NP_114121.2",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 719,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031915.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Val461Met",
"transcript": "NM_001320699.2",
"protein_id": "NP_001307628.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 707,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320699.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Val461Met",
"transcript": "ENST00000921340.1",
"protein_id": "ENSP00000591399.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 707,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921340.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Val461Met",
"transcript": "ENST00000965793.1",
"protein_id": "ENSP00000635852.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 707,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965793.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Val449Met",
"transcript": "NM_001393975.1",
"protein_id": "NP_001380904.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 695,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393975.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Val461Met",
"transcript": "NM_001393976.1",
"protein_id": "NP_001380905.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 562,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393976.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Val461Met",
"transcript": "ENST00000965794.1",
"protein_id": "ENSP00000635853.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 562,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965794.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1417G>A",
"hgvs_p": "p.Val473Met",
"transcript": "NM_001393977.1",
"protein_id": "NP_001380906.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 560,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393977.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Val449Met",
"transcript": "NM_001393978.1",
"protein_id": "NP_001380907.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 550,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393978.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Val461Met",
"transcript": "NM_001393979.1",
"protein_id": "NP_001380908.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 548,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393979.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Val449Met",
"transcript": "NM_001393980.1",
"protein_id": "NP_001380909.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 536,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393980.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Val273Met",
"transcript": "ENST00000965795.1",
"protein_id": "ENSP00000635854.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 519,
"cds_start": 817,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965795.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "c.869+5922G>A",
"hgvs_p": null,
"transcript": "ENST00000921339.1",
"protein_id": "ENSP00000591398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921339.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2-PHF11",
"gene_hgnc_id": null,
"hgvs_c": "n.2472G>A",
"hgvs_p": null,
"transcript": "NR_135324.2",
"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_135324.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETDB2",
"gene_hgnc_id": 20263,
"hgvs_c": "n.2472G>A",
"hgvs_p": null,
"transcript": "NR_172062.1",
"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_172062.1"
}
],
"gene_symbol": "SETDB2-PHF11",
"gene_hgnc_id": null,
"dbsnp": "rs2057413",
"frequency_reference_population": 0.72564423,
"hom_count_reference_population": 422250,
"allele_count_reference_population": 1153725,
"gnomad_exomes_af": 0.719425,
"gnomad_genomes_af": 0.784414,
"gnomad_exomes_ac": 1034367,
"gnomad_genomes_ac": 119358,
"gnomad_exomes_homalt": 374618,
"gnomad_genomes_homalt": 47632,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000011334411738062045,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.06800000369548798,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.0638,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.111,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000834784813593406,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001320727.2",
"gene_symbol": "SETDB2-PHF11",
"hgnc_id": null,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Val461Met"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_031915.3",
"gene_symbol": "SETDB2",
"hgnc_id": 20263,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1417G>A",
"hgvs_p": "p.Val473Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}