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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-136497805-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136497805&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 136497805,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014500.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "NM_014500.5",
"protein_id": "NP_055315.2",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 755,
"cds_start": 121,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": "ENST00000218364.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014500.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000218364.5",
"protein_id": "ENSP00000218364.4",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 755,
"cds_start": 121,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": "NM_014500.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000218364.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000535601.5",
"protein_id": "ENSP00000442699.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 755,
"cds_start": 121,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535601.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000866998.1",
"protein_id": "ENSP00000537057.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 764,
"cds_start": 121,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866998.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000959450.1",
"protein_id": "ENSP00000629509.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 764,
"cds_start": 121,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959450.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "NM_001163280.2",
"protein_id": "NP_001156752.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 755,
"cds_start": 121,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163280.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000866996.1",
"protein_id": "ENSP00000537055.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 755,
"cds_start": 121,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866996.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000866997.1",
"protein_id": "ENSP00000537056.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 755,
"cds_start": 121,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866997.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000928617.1",
"protein_id": "ENSP00000598676.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 755,
"cds_start": 121,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928617.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000959451.1",
"protein_id": "ENSP00000629510.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 751,
"cds_start": 121,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959451.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000959449.1",
"protein_id": "ENSP00000629508.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 745,
"cds_start": 121,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959449.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000866995.1",
"protein_id": "ENSP00000537054.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 739,
"cds_start": 121,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866995.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000866999.1",
"protein_id": "ENSP00000537058.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 739,
"cds_start": 121,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866999.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000959448.1",
"protein_id": "ENSP00000629507.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 739,
"cds_start": 121,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959448.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000928616.1",
"protein_id": "ENSP00000598675.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 735,
"cds_start": 121,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928616.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000448450.5",
"protein_id": "ENSP00000411381.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 243,
"cds_start": 121,
"cds_end": null,
"cds_length": 734,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448450.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe",
"transcript": "ENST00000425695.5",
"protein_id": "ENSP00000412420.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 222,
"cds_start": 121,
"cds_end": null,
"cds_length": 670,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425695.5"
}
],
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"dbsnp": null,
"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": 0.032234787940979004,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0535,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.111,
"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_014500.5",
"gene_symbol": "HTATSF1",
"hgnc_id": 5276,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Phe"
}
],
"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
}