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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: 10-24990568-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=24990568&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 24990568,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000331161.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENKUR",
"gene_hgnc_id": 28388,
"hgvs_c": "c.489G>T",
"hgvs_p": "p.Glu163Asp",
"transcript": "NM_145010.4",
"protein_id": "NP_659447.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 256,
"cds_start": 489,
"cds_end": null,
"cds_length": 771,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 3378,
"mane_select": "ENST00000331161.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENKUR",
"gene_hgnc_id": 28388,
"hgvs_c": "c.489G>T",
"hgvs_p": "p.Glu163Asp",
"transcript": "ENST00000331161.9",
"protein_id": "ENSP00000331044.4",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 256,
"cds_start": 489,
"cds_end": null,
"cds_length": 771,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 3378,
"mane_select": "NM_145010.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENKUR",
"gene_hgnc_id": 28388,
"hgvs_c": "c.489G>T",
"hgvs_p": "p.Glu163Asp",
"transcript": "ENST00000376363.5",
"protein_id": "ENSP00000365541.1",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 255,
"cds_start": 489,
"cds_end": null,
"cds_length": 768,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENKUR",
"gene_hgnc_id": 28388,
"hgvs_c": "c.303G>T",
"hgvs_p": "p.Glu101Asp",
"transcript": "ENST00000615958.4",
"protein_id": "ENSP00000478989.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 194,
"cds_start": 303,
"cds_end": null,
"cds_length": 585,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 3294,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENKUR",
"gene_hgnc_id": 28388,
"hgvs_c": "n.489G>T",
"hgvs_p": null,
"transcript": "ENST00000496261.6",
"protein_id": "ENSP00000432930.1",
"transcript_support_level": 1,
"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": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENKUR",
"gene_hgnc_id": 28388,
"hgvs_c": "c.303G>T",
"hgvs_p": "p.Glu101Asp",
"transcript": "NM_001270383.2",
"protein_id": "NP_001257312.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 194,
"cds_start": 303,
"cds_end": null,
"cds_length": 585,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENKUR",
"gene_hgnc_id": 28388,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Glu67Asp",
"transcript": "ENST00000483339.2",
"protein_id": "ENSP00000433763.2",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 124,
"cds_start": 201,
"cds_end": null,
"cds_length": 376,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 542,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENKUR",
"gene_hgnc_id": 28388,
"hgvs_c": "n.711G>T",
"hgvs_p": null,
"transcript": "NR_072992.2",
"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": 1939,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENKUR",
"gene_hgnc_id": 28388,
"hgvs_c": "n.341G>T",
"hgvs_p": null,
"transcript": "NR_072993.2",
"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": 2838,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285859",
"gene_hgnc_id": null,
"hgvs_c": "n.169+28693C>A",
"hgvs_p": null,
"transcript": "ENST00000648191.1",
"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": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "THNSL1",
"gene_hgnc_id": 26160,
"hgvs_c": "c.-216+28693C>A",
"hgvs_p": null,
"transcript": "XM_017016665.2",
"protein_id": "XP_016872154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": -4,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "THNSL1",
"gene_hgnc_id": 26160,
"hgvs_c": "c.-216+28693C>A",
"hgvs_p": null,
"transcript": "XM_047425764.1",
"protein_id": "XP_047281720.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": -4,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENKUR",
"gene_hgnc_id": 28388,
"dbsnp": "rs201936223",
"frequency_reference_population": 0.00001363815,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000136895,
"gnomad_genomes_af": 0.0000131454,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2052461802959442,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.1345,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.531,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000331161.9",
"gene_symbol": "ENKUR",
"hgnc_id": 28388,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.489G>T",
"hgvs_p": "p.Glu163Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000648191.1",
"gene_symbol": "ENSG00000285859",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.169+28693C>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XM_017016665.2",
"gene_symbol": "THNSL1",
"hgnc_id": 26160,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-216+28693C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}