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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: 10-100235758-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=100235758&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "CWF19L1",
"hgnc_id": 25613,
"hgvs_c": "c.1381C>T",
"hgvs_p": "p.Gln461*",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_018294.6",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CHUK-DT",
"hgnc_id": 55813,
"hgvs_c": "n.425+2315G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "ENST00000751289.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.65,
"chr": "10",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6499999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 538,
"aa_ref": "Q",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1381,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_018294.6",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1381C>T",
"hgvs_p": "p.Gln461*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354105.10",
"protein_coding": true,
"protein_id": "NP_060764.3",
"strand": false,
"transcript": "NM_018294.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 538,
"aa_ref": "Q",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1381,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000354105.10",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1381C>T",
"hgvs_p": "p.Gln461*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018294.6",
"protein_coding": true,
"protein_id": "ENSP00000326411.6",
"strand": false,
"transcript": "ENST00000354105.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 538,
"aa_ref": "Q",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2590,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1381,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000950162.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1381C>T",
"hgvs_p": "p.Gln461*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620221.1",
"strand": false,
"transcript": "ENST00000950162.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 537,
"aa_ref": "Q",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2597,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1378,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000950161.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Gln460*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620220.1",
"strand": false,
"transcript": "ENST00000950161.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 498,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001303404.2",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290333.1",
"strand": false,
"transcript": "NM_001303404.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 498,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000905383.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575442.1",
"strand": false,
"transcript": "ENST00000905383.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 427,
"aa_ref": "Q",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 1284,
"cds_start": 1048,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000950160.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Gln350*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620219.1",
"strand": false,
"transcript": "ENST00000950160.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 426,
"aa_ref": "Q",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 1281,
"cds_start": 1045,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000921478.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Gln349*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591537.1",
"strand": false,
"transcript": "ENST00000921478.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 401,
"aa_ref": "Q",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 1206,
"cds_start": 970,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001303405.2",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Gln324*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290334.1",
"strand": false,
"transcript": "NM_001303405.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 401,
"aa_ref": "Q",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1206,
"cds_start": 970,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001303406.2",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Gln324*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290335.1",
"strand": false,
"transcript": "NM_001303406.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 293,
"aa_ref": "Q",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 882,
"cds_start": 646,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001303407.2",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Gln216*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290336.1",
"strand": false,
"transcript": "NM_001303407.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 535,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": null,
"cds_end": null,
"cds_length": 1608,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905384.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1375-3C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575443.1",
"strand": false,
"transcript": "ENST00000905384.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000468709.5",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "n.*931C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492991.1",
"strand": false,
"transcript": "ENST00000468709.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000478047.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "n.1536C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000478047.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000482452.5",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "n.*768C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492899.1",
"strand": false,
"transcript": "ENST00000482452.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000468709.5",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "n.*931C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492991.1",
"strand": false,
"transcript": "ENST00000468709.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000482452.5",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "n.*768C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492899.1",
"strand": false,
"transcript": "ENST00000482452.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 825,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000751289.1",
"gene_hgnc_id": 55813,
"gene_symbol": "CHUK-DT",
"hgvs_c": "n.425+2315G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000751289.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 603,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000751290.1",
"gene_hgnc_id": 55813,
"gene_symbol": "CHUK-DT",
"hgvs_c": "n.384+2315G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000751290.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 615,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000751291.1",
"gene_hgnc_id": 55813,
"gene_symbol": "CHUK-DT",
"hgvs_c": "n.270+2315G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000751291.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 387,
"cdna_start": null,
"cds_end": null,
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}