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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: 3-149039647-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=149039647&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 149039647,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003071.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2549C>T",
"hgvs_p": "p.Pro850Leu",
"transcript": "NM_003071.4",
"protein_id": "NP_003062.2",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2549,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310053.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003071.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2549C>T",
"hgvs_p": "p.Pro850Leu",
"transcript": "ENST00000310053.10",
"protein_id": "ENSP00000308944.5",
"transcript_support_level": 1,
"aa_start": 850,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2549,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003071.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310053.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2549C>T",
"hgvs_p": "p.Pro850Leu",
"transcript": "ENST00000392912.6",
"protein_id": "ENSP00000376644.2",
"transcript_support_level": 1,
"aa_start": 850,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2549,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392912.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2546C>T",
"hgvs_p": "p.Pro849Leu",
"transcript": "ENST00000465259.5",
"protein_id": "ENSP00000420745.1",
"transcript_support_level": 1,
"aa_start": 849,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2546,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465259.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2666C>T",
"hgvs_p": "p.Pro889Leu",
"transcript": "ENST00000911718.1",
"protein_id": "ENSP00000581777.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2666,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911718.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2549C>T",
"hgvs_p": "p.Pro850Leu",
"transcript": "NM_001318935.2",
"protein_id": "NP_001305864.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2549,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318935.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2549C>T",
"hgvs_p": "p.Pro850Leu",
"transcript": "NM_139048.3",
"protein_id": "NP_620636.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2549,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139048.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2549C>T",
"hgvs_p": "p.Pro850Leu",
"transcript": "ENST00000494055.5",
"protein_id": "ENSP00000420429.1",
"transcript_support_level": 2,
"aa_start": 850,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2549,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494055.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2546C>T",
"hgvs_p": "p.Pro849Leu",
"transcript": "NM_001318934.2",
"protein_id": "NP_001305863.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2546,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318934.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Pro318Leu",
"transcript": "ENST00000467858.1",
"protein_id": "ENSP00000420106.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 424,
"cds_start": 953,
"cds_end": null,
"cds_length": 1276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467858.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2561C>T",
"hgvs_p": "p.Pro854Leu",
"transcript": "XM_011513091.3",
"protein_id": "XP_011511393.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2561,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513091.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2561C>T",
"hgvs_p": "p.Pro854Leu",
"transcript": "XM_011513092.3",
"protein_id": "XP_011511394.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2561,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513092.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2558C>T",
"hgvs_p": "p.Pro853Leu",
"transcript": "XM_011513093.3",
"protein_id": "XP_011511395.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2558,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513093.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2558C>T",
"hgvs_p": "p.Pro853Leu",
"transcript": "XM_017007078.2",
"protein_id": "XP_016862567.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2558,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007078.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "c.2546C>T",
"hgvs_p": "p.Pro849Leu",
"transcript": "XM_017007079.3",
"protein_id": "XP_016862568.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2546,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007079.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"hgvs_c": "n.276C>T",
"hgvs_p": null,
"transcript": "ENST00000472830.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000472830.1"
}
],
"gene_symbol": "HLTF",
"gene_hgnc_id": 11099,
"dbsnp": "rs201738138",
"frequency_reference_population": 0.0000031121274,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000274992,
"gnomad_genomes_af": 0.00000657756,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3374665677547455,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.321,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1789,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.602,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003071.4",
"gene_symbol": "HLTF",
"hgnc_id": 11099,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2549C>T",
"hgvs_p": "p.Pro850Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}