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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: 12-6329847-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6329847&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TNFRSF1A",
"hgnc_id": 11916,
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Ala330Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001065.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 688,
"alphamissense_prediction": null,
"alphamissense_score": 0.0777,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "12",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Autoinflammatory syndrome,TNF receptor-associated periodic fever syndrome (TRAPS),TNFRSF1A-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.012302368879318237,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 455,
"aa_ref": "A",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1368,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001065.4",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Ala330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000162749.7",
"protein_coding": true,
"protein_id": "NP_001056.1",
"strand": false,
"transcript": "NM_001065.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 455,
"aa_ref": "A",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1368,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000162749.7",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Ala330Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001065.4",
"protein_coding": true,
"protein_id": "ENSP00000162749.2",
"strand": false,
"transcript": "ENST00000162749.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 412,
"aa_ref": "A",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1527,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 1239,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000540022.5",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Ala287Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438343.1",
"strand": false,
"transcript": "ENST00000540022.5",
"transcript_support_level": 1
},
{
"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": 2990,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000366159.9",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "n.2089G>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": "ENST00000366159.9",
"transcript_support_level": 1
},
{
"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": 2069,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000534885.5",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "n.*465G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000441803.1",
"strand": false,
"transcript": "ENST00000534885.5",
"transcript_support_level": 1
},
{
"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": 2069,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000534885.5",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "n.*465G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000441803.1",
"strand": false,
"transcript": "ENST00000534885.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 528,
"aa_ref": "A",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000440083.7",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Ala403Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413224.3",
"strand": false,
"transcript": "ENST00000440083.7",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 452,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1359,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000898687.1",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Ala327Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568746.1",
"strand": false,
"transcript": "ENST00000898687.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 444,
"aa_ref": "A",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 1335,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000898688.1",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Ala319Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568747.1",
"strand": false,
"transcript": "ENST00000898688.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 429,
"aa_ref": "A",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2094,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1290,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947892.1",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Ala304Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617951.1",
"strand": false,
"transcript": "ENST00000947892.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 404,
"aa_ref": "A",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1966,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1215,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000947893.1",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Ala279Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617952.1",
"strand": false,
"transcript": "ENST00000947893.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 386,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1161,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898689.1",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Ala261Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568748.1",
"strand": false,
"transcript": "ENST00000898689.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1044,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001346091.2",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Ala222Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333020.1",
"strand": false,
"transcript": "NM_001346091.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 336,
"aa_ref": "A",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1011,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000947891.1",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Ala211Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617950.1",
"strand": false,
"transcript": "ENST00000947891.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 909,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001346092.2",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333021.1",
"strand": false,
"transcript": "NM_001346092.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 349,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": null,
"cds_end": null,
"cds_length": 1050,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898686.1",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "c.740-225G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568745.1",
"strand": false,
"transcript": "ENST00000898686.1",
"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": 2220,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000437813.8",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "n.*449G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513672.1",
"strand": false,
"transcript": "ENST00000437813.8",
"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": 2135,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000535958.2",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "n.*815G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513673.1",
"strand": false,
"transcript": "ENST00000535958.2",
"transcript_support_level": 4
},
{
"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": 1531,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000543995.5",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "n.*575G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000442405.1",
"strand": false,
"transcript": "ENST00000543995.5",
"transcript_support_level": 5
},
{
"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": 1850,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000698337.1",
"gene_hgnc_id": 11916,
"gene_symbol": "TNFRSF1A",
"hgvs_c": "n.949G>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": "ENST00000698337.1",
"transcript_support_level": null
},
{
"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": 2503,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000698338.1",
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