← 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: 1-226071445-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226071445&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 226071445,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000366815.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Gln126Arg",
"transcript": "NM_002107.7",
"protein_id": "NP_002098.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 136,
"cds_start": 377,
"cds_end": null,
"cds_length": 411,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": "ENST00000366815.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Gln126Arg",
"transcript": "ENST00000366815.10",
"protein_id": "ENSP00000355780.3",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 136,
"cds_start": 377,
"cds_end": null,
"cds_length": 411,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": "NM_002107.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Gln126Arg",
"transcript": "ENST00000366813.1",
"protein_id": "ENSP00000355778.1",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 136,
"cds_start": 377,
"cds_end": null,
"cds_length": 411,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Gln126Arg",
"transcript": "NM_001379043.1",
"protein_id": "NP_001365972.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 136,
"cds_start": 377,
"cds_end": null,
"cds_length": 411,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 1310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Gln126Arg",
"transcript": "NM_001379045.1",
"protein_id": "NP_001365974.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 136,
"cds_start": 377,
"cds_end": null,
"cds_length": 411,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Gln126Arg",
"transcript": "NM_001379046.1",
"protein_id": "NP_001365975.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 136,
"cds_start": 377,
"cds_end": null,
"cds_length": 411,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Gln126Arg",
"transcript": "NM_001379047.1",
"protein_id": "NP_001365976.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 136,
"cds_start": 377,
"cds_end": null,
"cds_length": 411,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Gln126Arg",
"transcript": "ENST00000366816.5",
"protein_id": "ENSP00000355781.1",
"transcript_support_level": 3,
"aa_start": 126,
"aa_end": null,
"aa_length": 136,
"cds_start": 377,
"cds_end": null,
"cds_length": 411,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Gln126Arg",
"transcript": "ENST00000655399.1",
"protein_id": "ENSP00000499800.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 136,
"cds_start": 377,
"cds_end": null,
"cds_length": 411,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 1151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Gln126Arg",
"transcript": "ENST00000661429.1",
"protein_id": "ENSP00000499385.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 136,
"cds_start": 377,
"cds_end": null,
"cds_length": 411,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Gln126Arg",
"transcript": "ENST00000666609.1",
"protein_id": "ENSP00000499275.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 136,
"cds_start": 377,
"cds_end": null,
"cds_length": 411,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 607,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "n.199A>G",
"hgvs_p": null,
"transcript": "ENST00000656829.1",
"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": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"hgvs_c": "c.*22A>G",
"hgvs_p": null,
"transcript": "ENST00000667897.1",
"protein_id": "ENSP00000499446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": -4,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "H3-3A",
"gene_hgnc_id": 4764,
"dbsnp": "rs1276519904",
"frequency_reference_population": 9.840002e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.84e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6713017225265503,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.515,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.217,
"phylop100way_prediction": "Pathogenic",
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000366815.10",
"gene_symbol": "H3-3A",
"hgnc_id": 4764,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Gln126Arg"
}
],
"clinvar_disease": "Bryant-Li-Bhoj neurodevelopmental syndrome 1,H3F3A-related disorder,Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:3",
"phenotype_combined": "Inborn genetic diseases|not provided|Bryant-Li-Bhoj neurodevelopmental syndrome 1|H3F3A-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}