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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: 1-109230944-GAC-AAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109230944&ref=GAC&alt=AAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SARS1",
"hgnc_id": 10537,
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"inheritance_mode": "AR,AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001330669.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 514,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1545,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006513.4",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000234677.7",
"protein_coding": true,
"protein_id": "NP_006504.2",
"strand": true,
"transcript": "NM_006513.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 514,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1545,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000234677.7",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006513.4",
"protein_coding": true,
"protein_id": "ENSP00000234677.2",
"strand": true,
"transcript": "ENST00000234677.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 575,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2106,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1728,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943750.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613809.1",
"strand": true,
"transcript": "ENST00000943750.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 553,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1662,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943751.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613810.1",
"strand": true,
"transcript": "ENST00000943751.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 545,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1638,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943753.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613812.1",
"strand": true,
"transcript": "ENST00000943753.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 539,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1620,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854548.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524607.1",
"strand": true,
"transcript": "ENST00000854548.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1921,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1617,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943752.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613811.1",
"strand": true,
"transcript": "ENST00000943752.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 536,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1611,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330669.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317598.1",
"strand": true,
"transcript": "NM_001330669.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 536,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1611,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369923.4",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358939.4",
"strand": true,
"transcript": "ENST00000369923.4",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 526,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1581,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854549.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524608.1",
"strand": true,
"transcript": "ENST00000854549.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 523,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1572,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854545.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524604.1",
"strand": true,
"transcript": "ENST00000854545.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 521,
"aa_ref": "D",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 635,
"cds_end": null,
"cds_length": 1566,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854546.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.535_537delGACinsAAT",
"hgvs_p": "p.Asp179Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524605.1",
"strand": true,
"transcript": "ENST00000854546.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 514,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1939,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1545,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933282.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603341.1",
"strand": true,
"transcript": "ENST00000933282.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 512,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1944,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1539,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933281.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603340.1",
"strand": true,
"transcript": "ENST00000933281.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 511,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1536,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943754.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613813.1",
"strand": true,
"transcript": "ENST00000943754.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 493,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1482,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943756.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613815.1",
"strand": true,
"transcript": "ENST00000943756.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 485,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 568,
"cds_end": null,
"cds_length": 1458,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933284.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603343.1",
"strand": true,
"transcript": "ENST00000933284.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 480,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 600,
"cds_end": null,
"cds_length": 1443,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854547.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524606.1",
"strand": true,
"transcript": "ENST00000854547.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 462,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1676,
"cdna_start": 529,
"cds_end": null,
"cds_length": 1389,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943755.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613814.1",
"strand": true,
"transcript": "ENST00000943755.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 459,
"aa_ref": "D",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 612,
"cds_end": null,
"cds_length": 1380,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933283.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.514_516delGACinsAAT",
"hgvs_p": "p.Asp172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603342.1",
"strand": true,
"transcript": "ENST00000933283.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": null,
"cds_end": null,
"cds_length": 1401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854550.1",
"gene_hgnc_id": 10537,
"gene_symbol": "SARS1",
"hgvs_c": "c.448-687_448-685delGACinsAAT",
"hgvs_p": null,
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}