← 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: 17-75779056-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75779056&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75779056,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000254810.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.His40Arg",
"transcript": "NM_005324.5",
"protein_id": "NP_005315.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 136,
"cds_start": 119,
"cds_end": null,
"cds_length": 411,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": "ENST00000254810.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.His40Arg",
"transcript": "ENST00000254810.8",
"protein_id": "ENSP00000254810.3",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 136,
"cds_start": 119,
"cds_end": null,
"cds_length": 411,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": "NM_005324.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.His40Arg",
"transcript": "ENST00000587171.1",
"protein_id": "ENSP00000468484.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 150,
"cds_start": 119,
"cds_end": null,
"cds_length": 454,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.His40Arg",
"transcript": "ENST00000586607.5",
"protein_id": "ENSP00000466020.1",
"transcript_support_level": 4,
"aa_start": 40,
"aa_end": null,
"aa_length": 136,
"cds_start": 119,
"cds_end": null,
"cds_length": 411,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.His40Arg",
"transcript": "ENST00000587560.5",
"protein_id": "ENSP00000468714.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 136,
"cds_start": 119,
"cds_end": null,
"cds_length": 411,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.His40Arg",
"transcript": "ENST00000589599.5",
"protein_id": "ENSP00000465813.1",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 136,
"cds_start": 119,
"cds_end": null,
"cds_length": 411,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.His40Arg",
"transcript": "ENST00000586270.5",
"protein_id": "ENSP00000465403.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 131,
"cds_start": 119,
"cds_end": null,
"cds_length": 396,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.His40Arg",
"transcript": "ENST00000592643.5",
"protein_id": "ENSP00000467165.1",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 113,
"cds_start": 119,
"cds_end": null,
"cds_length": 342,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.His40Arg",
"transcript": "ENST00000591890.5",
"protein_id": "ENSP00000466663.1",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 92,
"cds_start": 119,
"cds_end": null,
"cds_length": 279,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 783,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"hgvs_c": "n.717A>G",
"hgvs_p": null,
"transcript": "ENST00000586518.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 1701,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"hgvs_c": "n.252A>G",
"hgvs_p": null,
"transcript": "ENST00000589417.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 575,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"hgvs_c": "n.239A>G",
"hgvs_p": null,
"transcript": "ENST00000589949.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 842,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"hgvs_c": "n.118-174A>G",
"hgvs_p": null,
"transcript": "ENST00000593254.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "H3-3B",
"gene_hgnc_id": 4765,
"dbsnp": "rs1555585486",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7645128965377808,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.401,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8667,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.621,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000254810.8",
"gene_symbol": "H3-3B",
"hgnc_id": 4765,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.119A>G",
"hgvs_p": "p.His40Arg"
}
],
"clinvar_disease": "Bryant-Li-Bhoj neurodevelopmental syndrome 2,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:1",
"phenotype_combined": "Inborn genetic diseases|not provided|Bryant-Li-Bhoj neurodevelopmental syndrome 2",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}