← 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: 11-62998967-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62998967&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62998967,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000336232.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Gln239*",
"transcript": "NM_004254.4",
"protein_id": "NP_004245.2",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 542,
"cds_start": 715,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": "ENST00000336232.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Gln239*",
"transcript": "ENST00000336232.7",
"protein_id": "ENSP00000337335.2",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 542,
"cds_start": 715,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": "NM_004254.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Gln239*",
"transcript": "ENST00000430500.6",
"protein_id": "ENSP00000398548.2",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 542,
"cds_start": 715,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Gln239*",
"transcript": "ENST00000311438.12",
"protein_id": "ENSP00000311463.8",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 533,
"cds_start": 715,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Gln116*",
"transcript": "ENST00000535878.5",
"protein_id": "ENSP00000443368.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 419,
"cds_start": 346,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 1387,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"hgvs_c": "n.533C>T",
"hgvs_p": null,
"transcript": "ENST00000539841.1",
"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": 7578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Gln239*",
"transcript": "NM_001184732.2",
"protein_id": "NP_001171661.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 542,
"cds_start": 715,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Gln148*",
"transcript": "NM_001184733.2",
"protein_id": "NP_001171662.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 451,
"cds_start": 442,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Gln148*",
"transcript": "ENST00000545207.5",
"protein_id": "ENSP00000441658.1",
"transcript_support_level": 2,
"aa_start": 148,
"aa_end": null,
"aa_length": 451,
"cds_start": 442,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Gln116*",
"transcript": "NM_001184736.2",
"protein_id": "NP_001171665.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 419,
"cds_start": 346,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"hgvs_c": "c.487C>T",
"hgvs_p": "p.Gln163*",
"transcript": "XM_011545364.2",
"protein_id": "XP_011543666.2",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 466,
"cds_start": 487,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 2480,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"hgvs_c": "n.436C>T",
"hgvs_p": null,
"transcript": "ENST00000542795.5",
"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": 543,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"hgvs_c": "n.555C>T",
"hgvs_p": null,
"transcript": "ENST00000542904.1",
"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": 648,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301851",
"gene_hgnc_id": null,
"hgvs_c": "n.847-26938G>A",
"hgvs_p": null,
"transcript": "ENST00000782248.1",
"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": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC22A8",
"gene_hgnc_id": 10972,
"dbsnp": "rs11568496",
"frequency_reference_population": 0.0000024786957,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000020527,
"gnomad_genomes_af": 0.00000656754,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.048,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000336232.7",
"gene_symbol": "SLC22A8",
"hgnc_id": 10972,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Gln239*"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000782248.1",
"gene_symbol": "ENSG00000301851",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.847-26938G>A",
"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
}