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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: 1-100216174-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=100216174&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 100216174,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000370132.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Ser194Leu",
"transcript": "NM_001918.5",
"protein_id": "NP_001909.4",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 482,
"cds_start": 581,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 10799,
"mane_select": "ENST00000370132.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Ser194Leu",
"transcript": "ENST00000370132.8",
"protein_id": "ENSP00000359151.3",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 482,
"cds_start": 581,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 10799,
"mane_select": "NM_001918.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Ser194Leu",
"transcript": "ENST00000370131.3",
"protein_id": "ENSP00000359150.3",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 320,
"cds_start": 581,
"cds_end": null,
"cds_length": 963,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Ser194Leu",
"transcript": "ENST00000681617.1",
"protein_id": "ENSP00000505544.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 524,
"cds_start": 581,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "NM_001399969.1",
"protein_id": "NP_001386898.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 301,
"cds_start": 38,
"cds_end": null,
"cds_length": 906,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 10986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "NM_001399972.1",
"protein_id": "NP_001386901.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 301,
"cds_start": 38,
"cds_end": null,
"cds_length": 906,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 10859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000681780.1",
"protein_id": "ENSP00000505780.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 301,
"cds_start": 38,
"cds_end": null,
"cds_length": 906,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "XM_017000468.3",
"protein_id": "XP_016855957.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 301,
"cds_start": 38,
"cds_end": null,
"cds_length": 906,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 11046,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"hgvs_c": "n.413C>T",
"hgvs_p": null,
"transcript": "NR_174363.1",
"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": 10617,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"hgvs_c": "n.595C>T",
"hgvs_p": null,
"transcript": "NR_174364.1",
"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": 10958,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"hgvs_c": "n.595C>T",
"hgvs_p": null,
"transcript": "NR_174366.1",
"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": 10884,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"hgvs_c": "n.595C>T",
"hgvs_p": null,
"transcript": "XR_007095647.1",
"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": 1117,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285530",
"gene_hgnc_id": null,
"hgvs_c": "n.140-2470G>A",
"hgvs_p": null,
"transcript": "ENST00000835180.1",
"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": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"hgvs_c": "n.570-1191C>T",
"hgvs_p": null,
"transcript": "NR_174365.1",
"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": 10582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DBT",
"gene_hgnc_id": 2698,
"dbsnp": "rs121965003",
"frequency_reference_population": 0.0000013686724,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136867,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6099753379821777,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.331,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2657,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.429,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": "ENST00000370132.8",
"gene_symbol": "DBT",
"hgnc_id": 2698,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Ser194Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000835180.1",
"gene_symbol": "ENSG00000285530",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.140-2470G>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
}