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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: 8-17561952-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17561952&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17561952,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000494857.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Val505Met",
"transcript": "NM_001370338.1",
"protein_id": "NP_001357267.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 658,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 7615,
"mane_select": "ENST00000494857.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Val505Met",
"transcript": "ENST00000494857.6",
"protein_id": "ENSP00000419140.2",
"transcript_support_level": 5,
"aa_start": 505,
"aa_end": null,
"aa_length": 658,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 7615,
"mane_select": "NM_001370338.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Met",
"transcript": "ENST00000004531.14",
"protein_id": "ENSP00000004531.10",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 698,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 7560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Met",
"transcript": "ENST00000398090.3",
"protein_id": "ENSP00000381164.3",
"transcript_support_level": 1,
"aa_start": 544,
"aa_end": null,
"aa_length": 697,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 7557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Val505Met",
"transcript": "ENST00000522656.5",
"protein_id": "ENSP00000430464.1",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 658,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Val505Met",
"transcript": "ENST00000640220.1",
"protein_id": "ENSP00000492016.2",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 658,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Met",
"transcript": "NM_001164771.2",
"protein_id": "NP_001158243.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 698,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 7565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Met",
"transcript": "NM_003046.6",
"protein_id": "NP_003037.4",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 697,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 7562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Val505Met",
"transcript": "NM_001008539.4",
"protein_id": "NP_001008539.3",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 658,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 7569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Val504Met",
"transcript": "NM_001370337.1",
"protein_id": "NP_001357266.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 657,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 7612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Val504Met",
"transcript": "ENST00000470360.5",
"protein_id": "ENSP00000419873.2",
"transcript_support_level": 5,
"aa_start": 504,
"aa_end": null,
"aa_length": 657,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 7638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Val505Met",
"transcript": "XM_005273611.5",
"protein_id": "XP_005273668.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 658,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 7533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Val505Met",
"transcript": "XM_005273612.5",
"protein_id": "XP_005273669.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 658,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 7612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Val505Met",
"transcript": "XM_017013746.2",
"protein_id": "XP_016869235.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 658,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 7599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Val505Met",
"transcript": "XM_047422113.1",
"protein_id": "XP_047278069.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 658,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 7624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Val505Met",
"transcript": "XM_047422114.1",
"protein_id": "XP_047278070.1",
"transcript_support_level": null,
"aa_start": 505,
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"cds_start": 1513,
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"cdna_start": 1697,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Val504Met",
"transcript": "XM_047422115.1",
"protein_id": "XP_047278071.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 657,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 7609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Val504Met",
"transcript": "XM_047422116.1",
"protein_id": "XP_047278072.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 657,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC7A2",
"gene_hgnc_id": 11060,
"dbsnp": "rs56335308",
"frequency_reference_population": 0.023583772,
"hom_count_reference_population": 565,
"allele_count_reference_population": 38061,
"gnomad_exomes_af": 0.0243154,
"gnomad_genomes_af": 0.0165614,
"gnomad_exomes_ac": 35539,
"gnomad_genomes_ac": 2522,
"gnomad_exomes_homalt": 538,
"gnomad_genomes_homalt": 27,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004176199436187744,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.326,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2083,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.636,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000494857.6",
"gene_symbol": "SLC7A2",
"hgnc_id": 11060,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Val505Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}