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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: X-136499613-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136499613&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HTATSF1",
"hgnc_id": 5276,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_014500.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3128,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.20372989773750305,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 755,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 295,
"cds_end": null,
"cds_length": 2268,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_014500.5",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000218364.5",
"protein_coding": true,
"protein_id": "NP_055315.2",
"strand": true,
"transcript": "NM_014500.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 755,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 295,
"cds_end": null,
"cds_length": 2268,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000218364.5",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014500.5",
"protein_coding": true,
"protein_id": "ENSP00000218364.4",
"strand": true,
"transcript": "ENST00000218364.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 755,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 624,
"cds_end": null,
"cds_length": 2268,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000535601.5",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442699.1",
"strand": true,
"transcript": "ENST00000535601.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 764,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2810,
"cdna_start": 391,
"cds_end": null,
"cds_length": 2295,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866998.1",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537057.1",
"strand": true,
"transcript": "ENST00000866998.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 764,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 327,
"cds_end": null,
"cds_length": 2295,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000959450.1",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629509.1",
"strand": true,
"transcript": "ENST00000959450.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 755,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 474,
"cds_end": null,
"cds_length": 2268,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001163280.2",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001156752.1",
"strand": true,
"transcript": "NM_001163280.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 755,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3151,
"cdna_start": 765,
"cds_end": null,
"cds_length": 2268,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866996.1",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537055.1",
"strand": true,
"transcript": "ENST00000866996.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 755,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 449,
"cds_end": null,
"cds_length": 2268,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866997.1",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537056.1",
"strand": true,
"transcript": "ENST00000866997.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 755,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 408,
"cds_end": null,
"cds_length": 2268,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000928617.1",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598676.1",
"strand": true,
"transcript": "ENST00000928617.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 751,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2691,
"cdna_start": 316,
"cds_end": null,
"cds_length": 2256,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000959451.1",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629510.1",
"strand": true,
"transcript": "ENST00000959451.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 739,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": 771,
"cds_end": null,
"cds_length": 2220,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866995.1",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537054.1",
"strand": true,
"transcript": "ENST00000866995.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 739,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 316,
"cds_end": null,
"cds_length": 2220,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866999.1",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537058.1",
"strand": true,
"transcript": "ENST00000866999.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 739,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 431,
"cds_end": null,
"cds_length": 2220,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959448.1",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629507.1",
"strand": true,
"transcript": "ENST00000959448.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 735,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 473,
"cds_end": null,
"cds_length": 2208,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000928616.1",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598675.1",
"strand": true,
"transcript": "ENST00000928616.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 243,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1014,
"cdna_start": 482,
"cds_end": null,
"cds_length": 734,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000448450.5",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411381.1",
"strand": true,
"transcript": "ENST00000448450.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 222,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 885,
"cdna_start": 417,
"cds_end": null,
"cds_length": 670,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000425695.5",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412420.1",
"strand": true,
"transcript": "ENST00000425695.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 745,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2831,
"cdna_start": null,
"cds_end": null,
"cds_length": 2238,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959449.1",
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"hgvs_c": "c.187-15A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629508.1",
"strand": true,
"transcript": "ENST00000959449.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs889857618",
"effect": "missense_variant",
"frequency_reference_population": 9.4538956e-7,
"gene_hgnc_id": 5276,
"gene_symbol": "HTATSF1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 9.4539e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.441,
"pos": 136499613,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.062,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014500.5"
}
]
}