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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: 22-30626483-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30626483&ref=G&alt=A&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": "TCN2",
"hgnc_id": 11653,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Asp416Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_000355.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.0931,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Transcobalamin II deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05894893407821655,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 427,
"aa_ref": "D",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1284,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000355.4",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Asp416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000215838.8",
"protein_coding": true,
"protein_id": "NP_000346.2",
"strand": true,
"transcript": "NM_000355.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 427,
"aa_ref": "D",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1284,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000215838.8",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Asp416Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000355.4",
"protein_coding": true,
"protein_id": "ENSP00000215838.3",
"strand": true,
"transcript": "ENST00000215838.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 400,
"aa_ref": "D",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000407817.3",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Asp389Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384914.3",
"strand": true,
"transcript": "ENST00000407817.3",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 468,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 1407,
"cds_start": 1369,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000947107.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Asp457Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617166.1",
"strand": true,
"transcript": "ENST00000947107.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 461,
"aa_ref": "D",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2069,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1348,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000883718.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Asp450Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553777.1",
"strand": true,
"transcript": "ENST00000883718.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 437,
"aa_ref": "D",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000698271.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Asp426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513642.1",
"strand": true,
"transcript": "ENST00000698271.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "D",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2008,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1311,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000698268.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Asp425Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513639.1",
"strand": true,
"transcript": "ENST00000698268.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 425,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2072,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883717.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553776.1",
"strand": true,
"transcript": "ENST00000883717.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 424,
"aa_ref": "D",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000698272.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Asp413Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513643.1",
"strand": true,
"transcript": "ENST00000698272.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 424,
"aa_ref": "D",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000698273.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Asp413Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513644.1",
"strand": true,
"transcript": "ENST00000698273.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 423,
"aa_ref": "D",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1234,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000405742.7",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Asp412Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385914.3",
"strand": true,
"transcript": "ENST00000405742.7",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 422,
"aa_ref": "D",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1921,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000698265.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Asp411Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513636.1",
"strand": true,
"transcript": "ENST00000698265.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 420,
"aa_ref": "D",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1225,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000947108.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Asp409Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617167.1",
"strand": true,
"transcript": "ENST00000947108.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 402,
"aa_ref": "D",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 1209,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000450638.5",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Asp391Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394184.2",
"strand": true,
"transcript": "ENST00000450638.5",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 400,
"aa_ref": "D",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2111,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001184726.2",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Asp389Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171655.1",
"strand": true,
"transcript": "NM_001184726.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 397,
"aa_ref": "D",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1194,
"cds_start": 1156,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883716.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Asp386Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553775.1",
"strand": true,
"transcript": "ENST00000883716.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 395,
"aa_ref": "D",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1188,
"cds_start": 1150,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000947106.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Asp384Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617165.1",
"strand": true,
"transcript": "ENST00000947106.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 376,
"aa_ref": "D",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2014,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1131,
"cds_start": 1093,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698270.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Asp365Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513641.1",
"strand": true,
"transcript": "ENST00000698270.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 255,
"aa_ref": "D",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2027,
"cdna_start": 879,
"cds_end": null,
"cds_length": 768,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000927599.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Asp244Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597658.1",
"strand": true,
"transcript": "ENST00000927599.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 431,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": null,
"cds_end": null,
"cds_length": 1296,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000698266.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.*72G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513637.1",
"strand": true,
"transcript": "ENST00000698266.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 371,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": null,
"cds_end": null,
"cds_length": 1116,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698263.1",
"gene_hgnc_id": 11653,
"gene_symbol": "TCN2",
"hgvs_c": "c.*14G>A",
"hgvs_p": null,
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