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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: 11-62995728-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62995728&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC22A8",
"hgnc_id": 10972,
"hgvs_c": "c.977T>C",
"hgvs_p": "p.Met326Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004254.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000301851",
"hgnc_id": null,
"hgvs_c": "n.847-30177A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000782248.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1886,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19302710890769958,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 1629,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004254.4",
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"hgvs_c": "c.977T>C",
"hgvs_p": "p.Met326Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336232.7",
"protein_coding": true,
"protein_id": "NP_004245.2",
"strand": false,
"transcript": "NM_004254.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 1629,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000336232.7",
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"hgvs_c": "c.977T>C",
"hgvs_p": "p.Met326Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004254.4",
"protein_coding": true,
"protein_id": "ENSP00000337335.2",
"strand": false,
"transcript": "ENST00000336232.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1629,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000430500.6",
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"hgvs_c": "c.977T>C",
"hgvs_p": "p.Met326Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398548.2",
"strand": false,
"transcript": "ENST00000430500.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 533,
"aa_ref": "M",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1602,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000311438.12",
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"hgvs_c": "c.977T>C",
"hgvs_p": "p.Met326Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311463.8",
"strand": false,
"transcript": "ENST00000311438.12",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 419,
"aa_ref": "M",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1260,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000535878.5",
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Met203Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443368.1",
"strand": false,
"transcript": "ENST00000535878.5",
"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": 7578,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000539841.1",
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"hgvs_c": "n.1004T>C",
"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": "ENST00000539841.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1629,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001184732.2",
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"hgvs_c": "c.977T>C",
"hgvs_p": "p.Met326Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171661.1",
"strand": false,
"transcript": "NM_001184732.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 542,
"aa_ref": "M",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 1914,
"cds_end": null,
"cds_length": 1629,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000946794.1",
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"hgvs_c": "c.977T>C",
"hgvs_p": "p.Met326Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616853.1",
"strand": false,
"transcript": "ENST00000946794.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 474,
"aa_ref": "M",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1425,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886052.1",
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"hgvs_c": "c.977T>C",
"hgvs_p": "p.Met326Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556111.1",
"strand": false,
"transcript": "ENST00000886052.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 451,
"aa_ref": "M",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1356,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001184733.2",
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Met235Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171662.1",
"strand": false,
"transcript": "NM_001184733.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 451,
"aa_ref": "M",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 816,
"cds_end": null,
"cds_length": 1356,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000545207.5",
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Met235Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441658.1",
"strand": false,
"transcript": "ENST00000545207.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 419,
"aa_ref": "M",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1260,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001184736.2",
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Met203Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171665.1",
"strand": false,
"transcript": "NM_001184736.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 466,
"aa_ref": "M",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2480,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1401,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011545364.2",
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Met250Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543666.2",
"strand": false,
"transcript": "XM_011545364.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1572,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000782248.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000301851",
"hgvs_c": "n.847-30177A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000782248.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1377867614",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013682492,
"gene_hgnc_id": 10972,
"gene_symbol": "SLC22A8",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136825,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.993,
"pos": 62995728,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.18,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_004254.4"
}
]
}