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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-74531404-GCTGTAATC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=74531404&ref=GCTGTAATC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 74531404,
"ref": "GCTGTAATC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_006517.5",
"consequences": [
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1474_1481delGTAATCCT",
"hgvs_p": "p.Val492fs",
"transcript": "NM_006517.5",
"protein_id": "NP_006508.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 539,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000587091.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006517.5"
},
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1474_1481delGTAATCCT",
"hgvs_p": "p.Val492fs",
"transcript": "ENST00000587091.6",
"protein_id": "ENSP00000465734.1",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 539,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006517.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587091.6"
},
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1588_1595delGTAATCCT",
"hgvs_p": "p.Val530fs",
"transcript": "ENST00000878592.1",
"protein_id": "ENSP00000548651.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 577,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878592.1"
},
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1552_1559delGTAATCCT",
"hgvs_p": "p.Val518fs",
"transcript": "ENST00000922847.1",
"protein_id": "ENSP00000592906.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 565,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922847.1"
},
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1540_1547delGTAATCCT",
"hgvs_p": "p.Val514fs",
"transcript": "ENST00000922843.1",
"protein_id": "ENSP00000592902.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 561,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922843.1"
},
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1468_1475delGTAATCCT",
"hgvs_p": "p.Val490fs",
"transcript": "ENST00000878593.1",
"protein_id": "ENSP00000548652.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 537,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878593.1"
},
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1384_1391delGTAATCCT",
"hgvs_p": "p.Val462fs",
"transcript": "ENST00000878591.1",
"protein_id": "ENSP00000548650.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 509,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878591.1"
},
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1342_1349delGTAATCCT",
"hgvs_p": "p.Val448fs",
"transcript": "ENST00000961799.1",
"protein_id": "ENSP00000631858.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 495,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961799.1"
},
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1330_1337delGTAATCCT",
"hgvs_p": "p.Val444fs",
"transcript": "ENST00000922844.1",
"protein_id": "ENSP00000592903.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 491,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922844.1"
},
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1297_1304delGTAATCCT",
"hgvs_p": "p.Val433fs",
"transcript": "ENST00000922846.1",
"protein_id": "ENSP00000592905.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 480,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922846.1"
},
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1240_1247delGTAATCCT",
"hgvs_p": "p.Val414fs",
"transcript": "ENST00000878589.1",
"protein_id": "ENSP00000548648.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 461,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878589.1"
},
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1192_1199delGTAATCCT",
"hgvs_p": "p.Val398fs",
"transcript": "ENST00000878588.1",
"protein_id": "ENSP00000548647.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 445,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878588.1"
},
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1048_1055delGTAATCCT",
"hgvs_p": "p.Val350fs",
"transcript": "ENST00000878590.1",
"protein_id": "ENSP00000548649.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 397,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878590.1"
},
{
"aa_ref": "VIL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.505_512delGTAATCCT",
"hgvs_p": "p.Val169fs",
"transcript": "ENST00000922845.1",
"protein_id": "ENSP00000592904.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 216,
"cds_start": 505,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922845.1"
},
{
"aa_ref": "L*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.684_*4delGTAATCCT",
"hgvs_p": "p.Leu228fs",
"transcript": "ENST00000590447.1",
"protein_id": "ENSP00000466213.1",
"transcript_support_level": 5,
"aa_start": 228,
"aa_end": null,
"aa_length": 228,
"cds_start": 684,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.684_*4delGTAATCCT",
"hgvs_p": null,
"transcript": "ENST00000590447.1",
"protein_id": "ENSP00000466213.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "n.*1175_*1182delGTAATCCT",
"hgvs_p": null,
"transcript": "ENST00000636771.1",
"protein_id": "ENSP00000490445.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "n.*1175_*1182delGTAATCCT",
"hgvs_p": null,
"transcript": "ENST00000636771.1",
"protein_id": "ENSP00000490445.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636771.1"
}
],
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"dbsnp": "rs797045963",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_006517.5",
"gene_symbol": "SLC16A2",
"hgnc_id": 10923,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1474_1481delGTAATCCT",
"hgvs_p": "p.Val492fs"
}
],
"clinvar_disease": "Allan-Herndon-Dudley syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Allan-Herndon-Dudley syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}