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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: 11-66473411-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66473411&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66473411,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000320740.12",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.627T>C",
"hgvs_p": "p.Asp209Asp",
"transcript": "NM_145065.3",
"protein_id": "NP_659502.2",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 469,
"cds_start": 627,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": "ENST00000320740.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.627T>C",
"hgvs_p": "p.Asp209Asp",
"transcript": "ENST00000320740.12",
"protein_id": "ENSP00000322532.7",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 469,
"cds_start": 627,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": "NM_145065.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.555T>C",
"hgvs_p": "p.Asp185Asp",
"transcript": "ENST00000349459.10",
"protein_id": "ENSP00000309848.8",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 445,
"cds_start": 555,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"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": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.627T>C",
"hgvs_p": "p.Asp209Asp",
"transcript": "ENST00000524466.5",
"protein_id": "ENSP00000434677.1",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 331,
"cds_start": 627,
"cds_end": null,
"cds_length": 996,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.555T>C",
"hgvs_p": "p.Asp185Asp",
"transcript": "NM_001098510.2",
"protein_id": "NP_001091980.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 445,
"cds_start": 555,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.438T>C",
"hgvs_p": "p.Asp146Asp",
"transcript": "NM_001243135.2",
"protein_id": "NP_001230064.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 406,
"cds_start": 438,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.438T>C",
"hgvs_p": "p.Asp146Asp",
"transcript": "ENST00000618547.4",
"protein_id": "ENSP00000484220.1",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 406,
"cds_start": 438,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.306T>C",
"hgvs_p": "p.Asp102Asp",
"transcript": "NM_001243136.2",
"protein_id": "NP_001230065.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 362,
"cds_start": 306,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.306T>C",
"hgvs_p": "p.Asp102Asp",
"transcript": "ENST00000526296.5",
"protein_id": "ENSP00000436722.1",
"transcript_support_level": 3,
"aa_start": 102,
"aa_end": null,
"aa_length": 254,
"cds_start": 306,
"cds_end": null,
"cds_length": 765,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.627T>C",
"hgvs_p": "p.Asp209Asp",
"transcript": "XM_011544884.3",
"protein_id": "XP_011543186.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 469,
"cds_start": 627,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.555T>C",
"hgvs_p": "p.Asp185Asp",
"transcript": "XM_047426703.1",
"protein_id": "XP_047282659.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 445,
"cds_start": 555,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 2938,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3-DT",
"gene_hgnc_id": 55494,
"hgvs_c": "n.922A>G",
"hgvs_p": null,
"transcript": "ENST00000527092.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 1375,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "n.*291T>C",
"hgvs_p": null,
"transcript": "ENST00000532970.5",
"protein_id": "ENSP00000434314.1",
"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": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "n.*291T>C",
"hgvs_p": null,
"transcript": "ENST00000532970.5",
"protein_id": "ENSP00000434314.1",
"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": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "n.71-2380T>C",
"hgvs_p": null,
"transcript": "ENST00000531856.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.-13T>C",
"hgvs_p": null,
"transcript": "ENST00000528752.1",
"protein_id": "ENSP00000436161.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": -4,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3-DT",
"gene_hgnc_id": 55494,
"hgvs_c": "n.*79A>G",
"hgvs_p": null,
"transcript": "NR_120586.1",
"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": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"dbsnp": "rs2277302",
"frequency_reference_population": 0.24547046,
"hom_count_reference_population": 50539,
"allele_count_reference_population": 395801,
"gnomad_exomes_af": 0.242863,
"gnomad_genomes_af": 0.270506,
"gnomad_exomes_ac": 354656,
"gnomad_genomes_ac": 41145,
"gnomad_exomes_homalt": 44546,
"gnomad_genomes_homalt": 5993,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.053,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000320740.12",
"gene_symbol": "PELI3",
"hgnc_id": 30010,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.627T>C",
"hgvs_p": "p.Asp209Asp"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000527092.6",
"gene_symbol": "DPP3-DT",
"hgnc_id": 55494,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.922A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}