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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: 16-75414582-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=75414582&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CFDP1",
"hgnc_id": 1873,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_006324.3",
"verdict": "Benign"
},
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000261717",
"hgnc_id": null,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Ala117Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -9,
"transcript": "ENST00000567194.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_score": -9,
"allele_count_reference_population": 5967,
"alphamissense_prediction": null,
"alphamissense_score": 0.0756,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": "CFDP1-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005605638027191162,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 299,
"aa_ref": "A",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1293,
"cdna_start": 329,
"cds_end": null,
"cds_length": 900,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_006324.3",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000283882.4",
"protein_coding": true,
"protein_id": "NP_006315.1",
"strand": false,
"transcript": "NM_006324.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 299,
"aa_ref": "A",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1293,
"cdna_start": 329,
"cds_end": null,
"cds_length": 900,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000283882.4",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006324.3",
"protein_coding": true,
"protein_id": "ENSP00000283882.3",
"strand": false,
"transcript": "ENST00000283882.4",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 140,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 530,
"cdna_start": 455,
"cds_end": null,
"cds_length": 424,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000567194.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000261717",
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Ala117Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457654.1",
"strand": false,
"transcript": "ENST00000567194.5",
"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": 1167,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000566901.5",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "n.287G>A",
"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": "ENST00000566901.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1404,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1023,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862206.1",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532265.1",
"strand": false,
"transcript": "ENST00000862206.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 297,
"aa_ref": "A",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1288,
"cdna_start": 329,
"cds_end": null,
"cds_length": 894,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000915295.1",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585354.1",
"strand": false,
"transcript": "ENST00000915295.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 297,
"aa_ref": "A",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1286,
"cdna_start": 327,
"cds_end": null,
"cds_length": 894,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000915296.1",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585355.1",
"strand": false,
"transcript": "ENST00000915296.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 296,
"aa_ref": "A",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1282,
"cdna_start": 327,
"cds_end": null,
"cds_length": 891,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000915297.1",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585356.1",
"strand": false,
"transcript": "ENST00000915297.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1226,
"cdna_start": 321,
"cds_end": null,
"cds_length": 846,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000915298.1",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585357.1",
"strand": false,
"transcript": "ENST00000915298.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 259,
"aa_ref": "A",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1165,
"cdna_start": 321,
"cds_end": null,
"cds_length": 780,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862205.1",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532264.1",
"strand": false,
"transcript": "ENST00000862205.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 246,
"aa_ref": "A",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1101,
"cdna_start": 296,
"cds_end": null,
"cds_length": 741,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862207.1",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532266.1",
"strand": false,
"transcript": "ENST00000862207.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 83,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 254,
"cdna_start": 199,
"cds_end": null,
"cds_length": 254,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000566594.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000261717",
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Ala67Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457824.1",
"strand": false,
"transcript": "ENST00000566594.1",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 239,
"aa_ref": "A",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3347,
"cdna_start": 329,
"cds_end": null,
"cds_length": 720,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047433503.1",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289459.1",
"strand": false,
"transcript": "XM_047433503.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 239,
"aa_ref": "A",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 329,
"cds_end": null,
"cds_length": 720,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047433504.1",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289460.1",
"strand": false,
"transcript": "XM_047433504.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 223,
"aa_ref": "A",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1169,
"cdna_start": 329,
"cds_end": null,
"cds_length": 672,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011522814.3",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521116.1",
"strand": false,
"transcript": "XM_011522814.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 220,
"aa_ref": "A",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 933,
"cdna_start": 329,
"cds_end": null,
"cds_length": 663,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011522815.3",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Ala60Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521117.1",
"strand": false,
"transcript": "XM_011522815.3",
"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": 775,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000564286.1",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "n.296G>A",
"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": "ENST00000564286.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2320,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007064845.1",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "n.329G>A",
"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": "XR_007064845.1",
"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": 987,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007064846.1",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "n.329G>A",
"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": "XR_007064846.1",
"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": 4882,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007064847.1",
"gene_hgnc_id": 1873,
"gene_symbol": "CFDP1",
"hgvs_c": "n.329G>A",
"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": "XR_007064847.1",
"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": 137,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561887.1",
"gene_hgnc_id": null,
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}