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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: 22-29508512-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29508512&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "THOC5",
"hgnc_id": 19074,
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_003678.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 60,
"alphamissense_prediction": null,
"alphamissense_score": 0.1107,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "22",
"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": 0.03029993176460266,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4728,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_003678.5",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000490103.6",
"protein_coding": true,
"protein_id": "NP_003669.4",
"strand": false,
"transcript": "NM_003678.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4728,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000490103.6",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003678.5",
"protein_coding": true,
"protein_id": "ENSP00000420306.1",
"strand": false,
"transcript": "ENST00000490103.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 733,
"aa_ref": "S",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2389,
"cdna_start": 2206,
"cds_end": null,
"cds_length": 2202,
"cds_start": 2147,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000853420.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.2147G>A",
"hgvs_p": "p.Ser716Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523479.1",
"strand": false,
"transcript": "ENST00000853420.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 701,
"aa_ref": "S",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 2378,
"cds_end": null,
"cds_length": 2106,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000928658.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Ser684Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598717.1",
"strand": false,
"transcript": "ENST00000928658.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 700,
"aa_ref": "S",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 2125,
"cds_end": null,
"cds_length": 2103,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000957725.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Ser683Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627784.1",
"strand": false,
"transcript": "ENST00000957725.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 693,
"aa_ref": "S",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 2082,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000957724.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Ser676Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627783.1",
"strand": false,
"transcript": "ENST00000957724.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4844,
"cdna_start": 2211,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001002877.2",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001002877.1",
"strand": false,
"transcript": "NM_001002877.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 2332,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001002878.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001002878.1",
"strand": false,
"transcript": "NM_001002878.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 2216,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001002879.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001002879.1",
"strand": false,
"transcript": "NM_001002879.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 2216,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000397871.5",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380969.1",
"strand": false,
"transcript": "ENST00000397871.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2676,
"cdna_start": 2332,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000397872.5",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380970.1",
"strand": false,
"transcript": "ENST00000397872.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2374,
"cdna_start": 2220,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000397873.6",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380971.2",
"strand": false,
"transcript": "ENST00000397873.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2870,
"cdna_start": 2526,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000853415.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523474.1",
"strand": false,
"transcript": "ENST00000853415.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 2182,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000853418.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523477.1",
"strand": false,
"transcript": "ENST00000853418.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000853421.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523480.1",
"strand": false,
"transcript": "ENST00000853421.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2845,
"cdna_start": 2525,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000928651.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598709.1",
"strand": false,
"transcript": "ENST00000928651.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000928652.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Ser666Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598711.1",
"strand": false,
"transcript": "ENST00000928652.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 682,
"aa_ref": "S",
"aa_start": 665,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 2058,
"cds_end": null,
"cds_length": 2049,
"cds_start": 1994,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000853419.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1994G>A",
"hgvs_p": "p.Ser665Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523478.1",
"strand": false,
"transcript": "ENST00000853419.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 680,
"aa_ref": "S",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 2317,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000928656.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1988G>A",
"hgvs_p": "p.Ser663Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598715.1",
"strand": false,
"transcript": "ENST00000928656.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 649,
"aa_ref": "S",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2118,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000928654.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Ser632Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598713.1",
"strand": false,
"transcript": "ENST00000928654.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 645,
"aa_ref": "S",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1985,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1883,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000853417.1",
"gene_hgnc_id": 19074,
"gene_symbol": "THOC5",
"hgvs_c": "c.1883G>A",
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