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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: 5-112204453-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=112204453&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 112204453,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261486.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ser433Leu",
"transcript": "NM_022140.5",
"protein_id": "NP_071423.4",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 686,
"cds_start": 1298,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 4670,
"mane_select": "ENST00000261486.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ser433Leu",
"transcript": "ENST00000261486.6",
"protein_id": "ENSP00000261486.5",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 686,
"cds_start": 1298,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 4670,
"mane_select": "NM_022140.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ser433Leu",
"transcript": "NM_001347887.2",
"protein_id": "NP_001334816.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 708,
"cds_start": 1298,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ser433Leu",
"transcript": "XM_047417471.1",
"protein_id": "XP_047273427.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 708,
"cds_start": 1298,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ser433Leu",
"transcript": "XM_047417472.1",
"protein_id": "XP_047273428.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 708,
"cds_start": 1298,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ser433Leu",
"transcript": "XM_011543531.4",
"protein_id": "XP_011541833.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 706,
"cds_start": 1298,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ser433Leu",
"transcript": "XM_011543532.3",
"protein_id": "XP_011541834.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 697,
"cds_start": 1298,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ser433Leu",
"transcript": "XM_047417474.1",
"protein_id": "XP_047273430.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 686,
"cds_start": 1298,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ser433Leu",
"transcript": "XM_047417475.1",
"protein_id": "XP_047273431.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 686,
"cds_start": 1298,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Ser405Leu",
"transcript": "XM_011543533.3",
"protein_id": "XP_011541835.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 680,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Ser405Leu",
"transcript": "XM_047417476.1",
"protein_id": "XP_047273432.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 658,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 4848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Ser249Leu",
"transcript": "XM_047417477.1",
"protein_id": "XP_047273433.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 502,
"cds_start": 746,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Ser249Leu",
"transcript": "XM_047417478.1",
"protein_id": "XP_047273434.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 502,
"cds_start": 746,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251187",
"gene_hgnc_id": null,
"hgvs_c": "n.310G>A",
"hgvs_p": null,
"transcript": "ENST00000505825.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251187",
"gene_hgnc_id": null,
"hgvs_c": "n.162G>A",
"hgvs_p": null,
"transcript": "ENST00000506875.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "n.318C>T",
"hgvs_p": null,
"transcript": "ENST00000507810.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "n.207C>T",
"hgvs_p": null,
"transcript": "ENST00000513333.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "n.118C>T",
"hgvs_p": null,
"transcript": "ENST00000515047.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "n.1536C>T",
"hgvs_p": null,
"transcript": "NR_144931.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"hgvs_c": "n.1536C>T",
"hgvs_p": null,
"transcript": "XR_001742173.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251187",
"gene_hgnc_id": null,
"hgvs_c": "n.248-5506G>A",
"hgvs_p": null,
"transcript": "ENST00000774363.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EPB41L4A",
"gene_hgnc_id": 13278,
"dbsnp": "rs730882207",
"frequency_reference_population": 0.000013014539,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000116324,
"gnomad_genomes_af": 0.0000262909,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8878631591796875,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.832,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2363,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.014,
"phylop100way_prediction": "Uncertain_significance",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000261486.6",
"gene_symbol": "EPB41L4A",
"hgnc_id": 13278,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ser433Leu"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000505825.2",
"gene_symbol": "ENSG00000251187",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.310G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Failure to thrive,Spastic paraplegia",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Failure to thrive;Spastic paraplegia",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}