← 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: 19-43597154-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43597154&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43597154,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024327.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "NM_001145347.2",
"protein_id": "NP_001138819.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 46,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336564.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145347.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000336564.5",
"protein_id": "ENSP00000337852.4",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 46,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145347.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336564.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "NM_024327.2",
"protein_id": "NP_077303.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 46,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024327.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000391965.6",
"protein_id": "ENSP00000375827.2",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 46,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391965.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000525771.1",
"protein_id": "ENSP00000436182.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 46,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525771.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000528387.5",
"protein_id": "ENSP00000435934.1",
"transcript_support_level": 3,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 46,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528387.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000529930.1",
"protein_id": "ENSP00000435463.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 46,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529930.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000533118.5",
"protein_id": "ENSP00000435899.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 46,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533118.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000895833.1",
"protein_id": "ENSP00000565892.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 46,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895833.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000895834.1",
"protein_id": "ENSP00000565893.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 46,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895834.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000934409.1",
"protein_id": "ENSP00000604468.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 46,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934409.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000934410.1",
"protein_id": "ENSP00000604469.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 46,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934410.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000934411.1",
"protein_id": "ENSP00000604470.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 170,
"cds_start": 46,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934411.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000895835.1",
"protein_id": "ENSP00000565894.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 154,
"cds_start": 46,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895835.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000895836.1",
"protein_id": "ENSP00000565895.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 154,
"cds_start": 46,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895836.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM5",
"gene_hgnc_id": 37248,
"hgvs_c": "c.-135C>T",
"hgvs_p": null,
"transcript": "ENST00000607544.1",
"protein_id": "ENSP00000476253.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": null,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ZNF576",
"gene_hgnc_id": 28357,
"hgvs_c": "n.190C>T",
"hgvs_p": null,
"transcript": "ENST00000595041.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000595041.1"
}
],
"gene_symbol": "ZNF576",
"gene_hgnc_id": 28357,
"dbsnp": "rs996129527",
"frequency_reference_population": 0.000027261698,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000287307,
"gnomad_genomes_af": 0.0000131461,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.022756487131118774,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0708,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_024327.2",
"gene_symbol": "ZNF576",
"hgnc_id": 28357,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000607544.1",
"gene_symbol": "SRRM5",
"hgnc_id": 37248,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-135C>T",
"hgvs_p": null
}
],
"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
}