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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: 19-49054462-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49054462&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49054462,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033142.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CGB7",
"gene_hgnc_id": 16451,
"hgvs_c": "c.327A>C",
"hgvs_p": "p.Gln109His",
"transcript": "NM_001385261.1",
"protein_id": "NP_001372190.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 165,
"cds_start": 327,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684222.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385261.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CGB7",
"gene_hgnc_id": 16451,
"hgvs_c": "c.327A>C",
"hgvs_p": "p.Gln109His",
"transcript": "ENST00000684222.1",
"protein_id": "ENSP00000507822.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 165,
"cds_start": 327,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385261.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684222.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CGB7",
"gene_hgnc_id": 16451,
"hgvs_c": "c.327A>C",
"hgvs_p": "p.Gln109His",
"transcript": "NM_033142.2",
"protein_id": "NP_149133.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 165,
"cds_start": 327,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033142.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CGB7",
"gene_hgnc_id": 16451,
"hgvs_c": "c.327A>C",
"hgvs_p": "p.Gln109His",
"transcript": "ENST00000596965.5",
"protein_id": "ENSP00000469076.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 165,
"cds_start": 327,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596965.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CGB7",
"gene_hgnc_id": 16451,
"hgvs_c": "c.327A>C",
"hgvs_p": "p.Gln109His",
"transcript": "ENST00000597853.5",
"protein_id": "ENSP00000470813.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 165,
"cds_start": 327,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597853.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CGB7",
"gene_hgnc_id": 16451,
"hgvs_c": "c.327A>C",
"hgvs_p": "p.Gln109His",
"transcript": "ENST00000880970.1",
"protein_id": "ENSP00000551029.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 165,
"cds_start": 327,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880970.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CGB7",
"gene_hgnc_id": 16451,
"hgvs_c": "c.327A>C",
"hgvs_p": "p.Gln109His",
"transcript": "ENST00000880971.1",
"protein_id": "ENSP00000551030.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 165,
"cds_start": 327,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880971.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CGB7",
"gene_hgnc_id": 16451,
"hgvs_c": "c.327A>C",
"hgvs_p": "p.Gln109His",
"transcript": "ENST00000929460.1",
"protein_id": "ENSP00000599519.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 165,
"cds_start": 327,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929460.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CGB7",
"gene_hgnc_id": 16451,
"hgvs_c": "c.327A>C",
"hgvs_p": "p.Gln109His",
"transcript": "ENST00000929461.1",
"protein_id": "ENSP00000599520.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 165,
"cds_start": 327,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929461.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CGB7",
"gene_hgnc_id": 16451,
"hgvs_c": "c.159A>C",
"hgvs_p": "p.Gln53His",
"transcript": "ENST00000929462.1",
"protein_id": "ENSP00000599521.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 109,
"cds_start": 159,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929462.1"
}
],
"gene_symbol": "CGB7",
"gene_hgnc_id": 16451,
"dbsnp": "rs780960921",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.00000899412,
"gnomad_genomes_af": 0.0000140461,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.030925750732421875,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.1697,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.719,
"phylop100way_prediction": "Benign",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_033142.2",
"gene_symbol": "CGB7",
"hgnc_id": 16451,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.327A>C",
"hgvs_p": "p.Gln109His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}