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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: 19-33772017-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=33772017&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CHST8",
"hgnc_id": 15993,
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_022467.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_score": -6,
"allele_count_reference_population": 73,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "CHST8-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6399999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001127895.2",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000650847.1",
"protein_coding": true,
"protein_id": "NP_001121367.1",
"strand": true,
"transcript": "NM_001127895.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000650847.1",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001127895.2",
"protein_coding": true,
"protein_id": "ENSP00000499084.1",
"strand": true,
"transcript": "ENST00000650847.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": 987,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000262622.4",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262622.3",
"strand": true,
"transcript": "ENST00000262622.4",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000438847.7",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393879.1",
"strand": true,
"transcript": "ENST00000438847.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 659,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001127896.2",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121368.1",
"strand": true,
"transcript": "NM_001127896.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": 987,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_022467.3",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_071912.2",
"strand": true,
"transcript": "NM_022467.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000434302.5",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392604.1",
"strand": true,
"transcript": "ENST00000434302.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 772,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000914938.1",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584997.1",
"strand": true,
"transcript": "ENST00000914938.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000914939.1",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584998.1",
"strand": true,
"transcript": "ENST00000914939.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": 808,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000914940.1",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584999.1",
"strand": true,
"transcript": "ENST00000914940.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 836,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000914941.1",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585000.1",
"strand": true,
"transcript": "ENST00000914941.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 411,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000914942.1",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585001.1",
"strand": true,
"transcript": "ENST00000914942.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000914943.1",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585002.1",
"strand": true,
"transcript": "ENST00000914943.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000959496.1",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629555.1",
"strand": true,
"transcript": "ENST00000959496.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 177,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1040,
"cdna_start": 734,
"cds_end": null,
"cds_length": 535,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000591231.5",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467012.1",
"strand": true,
"transcript": "ENST00000591231.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011527222.1",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525524.1",
"strand": true,
"transcript": "XM_011527222.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2594,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011527224.1",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525526.1",
"strand": true,
"transcript": "XM_011527224.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 638,
"cds_end": null,
"cds_length": 1275,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017027143.1",
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882632.1",
"strand": true,
"transcript": "XM_017027143.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs149660944",
"effect": "synonymous_variant",
"frequency_reference_population": 0.00004534725,
"gene_hgnc_id": 15993,
"gene_symbol": "CHST8",
"gnomad_exomes_ac": 31,
"gnomad_exomes_af": 0.0000212696,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 42,
"gnomad_genomes_af": 0.000275735,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "CHST8-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.253,
"pos": 33772017,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_022467.3"
}
]
}