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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: 5-138344948-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138344948&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FAM53C",
"hgnc_id": 1336,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_016605.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.0715,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.058512210845947266,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4143,
"cdna_start": 454,
"cds_end": null,
"cds_length": 1179,
"cds_start": 260,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_016605.3",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000239906.10",
"protein_coding": true,
"protein_id": "NP_057689.1",
"strand": true,
"transcript": "NM_016605.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4143,
"cdna_start": 454,
"cds_end": null,
"cds_length": 1179,
"cds_start": 260,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000239906.10",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016605.3",
"protein_coding": true,
"protein_id": "ENSP00000239906.5",
"strand": true,
"transcript": "ENST00000239906.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1179,
"cds_start": 260,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000434981.6",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403705.2",
"strand": true,
"transcript": "ENST00000434981.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 114,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 923,
"cdna_start": null,
"cds_end": null,
"cds_length": 345,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513056.5",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.137-448C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425154.1",
"strand": true,
"transcript": "ENST00000513056.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4397,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1179,
"cds_start": 260,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001135647.2",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129119.1",
"strand": true,
"transcript": "NM_001135647.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 502,
"cds_end": null,
"cds_length": 1179,
"cds_start": 260,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889027.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559086.1",
"strand": true,
"transcript": "ENST00000889027.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4582,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1179,
"cds_start": 260,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889030.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559089.1",
"strand": true,
"transcript": "ENST00000889030.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5885,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 1179,
"cds_start": 260,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000927751.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597811.1",
"strand": true,
"transcript": "ENST00000927751.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4282,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1179,
"cds_start": 260,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927754.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597813.1",
"strand": true,
"transcript": "ENST00000927754.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4285,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1179,
"cds_start": 260,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927755.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597814.1",
"strand": true,
"transcript": "ENST00000927755.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 392,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4562,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1179,
"cds_start": 260,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927759.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597818.1",
"strand": true,
"transcript": "ENST00000927759.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4133,
"cdna_start": 448,
"cds_end": null,
"cds_length": 1179,
"cds_start": 260,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000960844.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630903.1",
"strand": true,
"transcript": "ENST00000960844.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4640,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1179,
"cds_start": 260,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000960845.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630904.1",
"strand": true,
"transcript": "ENST00000960845.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 391,
"aa_ref": "P",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": 451,
"cds_end": null,
"cds_length": 1176,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889029.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559088.1",
"strand": true,
"transcript": "ENST00000889029.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 382,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3994,
"cdna_start": 305,
"cds_end": null,
"cds_length": 1149,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001350195.2",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337124.1",
"strand": true,
"transcript": "NM_001350195.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 164,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 571,
"cdna_start": 304,
"cds_end": null,
"cds_length": 497,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000511276.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427610.1",
"strand": true,
"transcript": "ENST00000511276.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 181,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": null,
"cds_end": null,
"cds_length": 546,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350194.2",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.137-510C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337123.1",
"strand": true,
"transcript": "NM_001350194.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3498,
"cdna_start": null,
"cds_end": null,
"cds_length": 546,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889028.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.137-510C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559087.1",
"strand": true,
"transcript": "ENST00000889028.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3472,
"cdna_start": null,
"cds_end": null,
"cds_length": 546,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927758.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "c.137-510C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597817.1",
"strand": true,
"transcript": "ENST00000927758.1",
"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": 717,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000505136.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "n.357C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000505136.1",
"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": 772,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000505768.1",
"gene_hgnc_id": 1336,
"gene_symbol": "FAM53C",
"hgvs_c": "n.475C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
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