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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-150470381-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=150470381&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 150470381,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000370401.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*",
"transcript": "NM_005491.5",
"protein_id": "NP_005482.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 774,
"cds_start": 808,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": "ENST00000370401.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*",
"transcript": "ENST00000370401.7",
"protein_id": "ENSP00000359428.2",
"transcript_support_level": 5,
"aa_start": 270,
"aa_end": null,
"aa_length": 774,
"cds_start": 808,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": "NM_005491.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.733C>T",
"hgvs_p": "p.Gln245*",
"transcript": "ENST00000426613.5",
"protein_id": "ENSP00000397438.2",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 749,
"cds_start": 733,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*",
"transcript": "NM_001400512.1",
"protein_id": "NP_001387441.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1023,
"cds_start": 808,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 4449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*",
"transcript": "ENST00000682016.1",
"protein_id": "ENSP00000507991.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1023,
"cds_start": 808,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.733C>T",
"hgvs_p": "p.Gln245*",
"transcript": "NM_001177465.3",
"protein_id": "NP_001170936.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 998,
"cds_start": 733,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.733C>T",
"hgvs_p": "p.Gln245*",
"transcript": "ENST00000432680.7",
"protein_id": "ENSP00000414517.2",
"transcript_support_level": 2,
"aa_start": 245,
"aa_end": null,
"aa_length": 998,
"cds_start": 733,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*",
"transcript": "NM_001400515.1",
"protein_id": "NP_001387444.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 774,
"cds_start": 808,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*",
"transcript": "ENST00000682253.1",
"protein_id": "ENSP00000506890.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 774,
"cds_start": 808,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 5148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.733C>T",
"hgvs_p": "p.Gln245*",
"transcript": "NM_001177466.3",
"protein_id": "NP_001170937.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 749,
"cds_start": 733,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 4725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "ENST00000683696.1",
"protein_id": "ENSP00000507408.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 736,
"cds_start": 694,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 4673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*",
"transcript": "NM_001400513.1",
"protein_id": "NP_001387442.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 733,
"cds_start": 808,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*",
"transcript": "ENST00000262858.8",
"protein_id": "ENSP00000262858.6",
"transcript_support_level": 5,
"aa_start": 270,
"aa_end": null,
"aa_length": 733,
"cds_start": 808,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.733C>T",
"hgvs_p": "p.Gln245*",
"transcript": "NM_001400514.1",
"protein_id": "NP_001387443.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 708,
"cds_start": 733,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 4602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.733C>T",
"hgvs_p": "p.Gln245*",
"transcript": "ENST00000683453.1",
"protein_id": "ENSP00000507454.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 708,
"cds_start": 733,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*",
"transcript": "XM_011531092.4",
"protein_id": "XP_011529394.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1023,
"cds_start": 808,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*",
"transcript": "XM_024452317.2",
"protein_id": "XP_024308085.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1023,
"cds_start": 808,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*",
"transcript": "XM_047441709.1",
"protein_id": "XP_047297665.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1023,
"cds_start": 808,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*",
"transcript": "XM_047441710.1",
"protein_id": "XP_047297666.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1023,
"cds_start": 808,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 5310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAMLD1",
"gene_hgnc_id": 2568,
"dbsnp": "rs121909494",
"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": 0.5799999833106995,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.913,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000370401.7",
"gene_symbol": "MAMLD1",
"hgnc_id": 2568,
"effects": [
"stop_gained"
],
"inheritance_mode": "XL",
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*"
}
],
"clinvar_disease": " X-linked,Hypospadias 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hypospadias 2, X-linked",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}