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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-70925875-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=70925875&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 70925875,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032803.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1798C>A",
"hgvs_p": "p.Arg600Ser",
"transcript": "NM_032803.6",
"protein_id": "NP_116192.4",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 619,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": "ENST00000374299.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032803.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1798C>A",
"hgvs_p": "p.Arg600Ser",
"transcript": "ENST00000374299.8",
"protein_id": "ENSP00000363417.3",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 619,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": "NM_032803.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374299.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1849C>A",
"hgvs_p": "p.Arg617Ser",
"transcript": "ENST00000921007.1",
"protein_id": "ENSP00000591066.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 636,
"cds_start": 1849,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2023,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921007.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1849C>A",
"hgvs_p": "p.Arg617Ser",
"transcript": "ENST00000921008.1",
"protein_id": "ENSP00000591067.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 636,
"cds_start": 1849,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921008.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1798C>A",
"hgvs_p": "p.Arg600Ser",
"transcript": "NM_001048164.3",
"protein_id": "NP_001041629.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 619,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001048164.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1798C>A",
"hgvs_p": "p.Arg600Ser",
"transcript": "ENST00000298085.4",
"protein_id": "ENSP00000298085.4",
"transcript_support_level": 2,
"aa_start": 600,
"aa_end": null,
"aa_length": 619,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298085.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1798C>A",
"hgvs_p": "p.Arg600Ser",
"transcript": "ENST00000921017.1",
"protein_id": "ENSP00000591076.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 619,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921017.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1798C>A",
"hgvs_p": "p.Arg600Ser",
"transcript": "ENST00000921018.1",
"protein_id": "ENSP00000591077.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 619,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921018.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1798C>A",
"hgvs_p": "p.Arg600Ser",
"transcript": "ENST00000921019.1",
"protein_id": "ENSP00000591078.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 619,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921019.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1795C>A",
"hgvs_p": "p.Arg599Ser",
"transcript": "ENST00000921009.1",
"protein_id": "ENSP00000591068.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 618,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921009.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1795C>A",
"hgvs_p": "p.Arg599Ser",
"transcript": "ENST00000921011.1",
"protein_id": "ENSP00000591070.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 618,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921011.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1792C>A",
"hgvs_p": "p.Arg598Ser",
"transcript": "ENST00000921010.1",
"protein_id": "ENSP00000591069.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 617,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1926,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921010.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1735C>A",
"hgvs_p": "p.Arg579Ser",
"transcript": "ENST00000921014.1",
"protein_id": "ENSP00000591073.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 598,
"cds_start": 1735,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921014.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1735C>A",
"hgvs_p": "p.Arg579Ser",
"transcript": "ENST00000921016.1",
"protein_id": "ENSP00000591075.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 598,
"cds_start": 1735,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921016.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1639C>A",
"hgvs_p": "p.Arg547Ser",
"transcript": "ENST00000921013.1",
"protein_id": "ENSP00000591072.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 566,
"cds_start": 1639,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921013.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1528C>A",
"hgvs_p": "p.Arg510Ser",
"transcript": "ENST00000921012.1",
"protein_id": "ENSP00000591071.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 529,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921012.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1528C>A",
"hgvs_p": "p.Arg510Ser",
"transcript": "ENST00000921015.1",
"protein_id": "ENSP00000591074.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 529,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921015.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"hgvs_c": "c.1798C>A",
"hgvs_p": "p.Arg600Ser",
"transcript": "XM_047442598.1",
"protein_id": "XP_047298554.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 619,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 2897,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442598.1"
}
],
"gene_symbol": "SLC7A3",
"gene_hgnc_id": 11061,
"dbsnp": "rs138954830",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.00000182163,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03874137997627258,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.189,
"revel_prediction": "Benign",
"alphamissense_score": 0.1104,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.749,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_032803.6",
"gene_symbol": "SLC7A3",
"hgnc_id": 11061,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1798C>A",
"hgvs_p": "p.Arg600Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}