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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: 10-66928097-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=66928097&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LRRTM3",
"hgnc_id": 19410,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_178011.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CTNNA3",
"hgnc_id": 2511,
"hgvs_c": "c.1048-152573G>A",
"hgvs_p": null,
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_013266.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC101928961",
"hgnc_id": null,
"hgvs_c": "n.2718-17604G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NR_111911.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0608,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12393516302108765,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 581,
"aa_ref": "P",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6049,
"cdna_start": 1729,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_178011.5",
"gene_hgnc_id": 19410,
"gene_symbol": "LRRTM3",
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361320.5",
"protein_coding": true,
"protein_id": "NP_821079.3",
"strand": true,
"transcript": "NM_178011.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 581,
"aa_ref": "P",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6049,
"cdna_start": 1729,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000361320.5",
"gene_hgnc_id": 19410,
"gene_symbol": "LRRTM3",
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_178011.5",
"protein_coding": true,
"protein_id": "ENSP00000355187.3",
"strand": true,
"transcript": "ENST00000361320.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 895,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10696,
"cdna_start": null,
"cds_end": null,
"cds_length": 2688,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013266.4",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1048-152573G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000433211.7",
"protein_coding": true,
"protein_id": "NP_037398.2",
"strand": false,
"transcript": "NM_013266.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 895,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10696,
"cdna_start": null,
"cds_end": null,
"cds_length": 2688,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000433211.7",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1048-152573G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013266.4",
"protein_coding": true,
"protein_id": "ENSP00000389714.1",
"strand": false,
"transcript": "ENST00000433211.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 895,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10620,
"cdna_start": null,
"cds_end": null,
"cds_length": 2688,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127384.3",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1048-152573G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120856.1",
"strand": false,
"transcript": "NM_001127384.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 895,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10763,
"cdna_start": null,
"cds_end": null,
"cds_length": 2688,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682758.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1048-152573G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508047.1",
"strand": false,
"transcript": "ENST00000682758.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 895,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10766,
"cdna_start": null,
"cds_end": null,
"cds_length": 2688,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684154.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1048-152573G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508371.1",
"strand": false,
"transcript": "ENST00000684154.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 828,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4919,
"cdna_start": null,
"cds_end": null,
"cds_length": 2487,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682945.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1048-152573G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506843.1",
"strand": false,
"transcript": "ENST00000682945.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 126,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 470,
"cdna_start": null,
"cds_end": null,
"cds_length": 381,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000494580.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.127-152573G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477144.1",
"strand": false,
"transcript": "ENST00000494580.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
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"aa_length": 970,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10962,
"cdna_start": null,
"cds_end": null,
"cds_length": 2913,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017016152.2",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1272+13849G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871641.1",
"strand": false,
"transcript": "XM_017016152.2",
"transcript_support_level": null
},
{
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"aa_length": 918,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 10689,
"cdna_start": null,
"cds_end": null,
"cds_length": 2757,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017016151.2",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1117-152573G>A",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871640.1",
"strand": false,
"transcript": "XM_017016151.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 19,
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"feature": "XM_047425124.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1084-152573G>A",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281080.1",
"strand": false,
"transcript": "XM_047425124.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10075,
"cdna_start": null,
"cds_end": null,
"cds_length": 1905,
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"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "XM_017016155.3",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.265-152573G>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871644.1",
"strand": false,
"transcript": "XM_017016155.3",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 14,
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"feature": "XM_017016156.2",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.265-152573G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871645.1",
"strand": false,
"transcript": "XM_017016156.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
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"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000682166.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.*744-1885G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507319.1",
"strand": false,
"transcript": "ENST00000682166.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2056,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683272.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.1242-152573G>A",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000683272.1",
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},
{
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"biotype": "nonsense_mediated_decay",
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000683624.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.*744-152573G>A",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000507406.1",
"strand": false,
"transcript": "ENST00000683624.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
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"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 5,
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"feature": "ENST00000683771.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.573-152573G>A",
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"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000683771.1",
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},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 10517,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683963.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.*572-152573G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507029.1",
"strand": false,
"transcript": "ENST00000683963.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3780,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_111911.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC101928961",
"hgvs_c": "n.2718-17604G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_111911.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 19410,
"gene_symbol": "LRRTM3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.812,
"pos": 66928097,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.345,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_178011.5"
}
]
}