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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: 2-27440840-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27440840&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NRBP1",
"hgnc_id": 7993,
"hgvs_c": "c.1253C>T",
"hgvs_p": "p.Pro418Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001321358.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.0944,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.46186500787734985,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_013392.4",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379852.8",
"protein_coding": true,
"protein_id": "NP_037524.1",
"strand": true,
"transcript": "NM_013392.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000379852.8",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013392.4",
"protein_coding": true,
"protein_id": "ENSP00000369181.3",
"strand": true,
"transcript": "ENST00000379852.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 543,
"aa_ref": "P",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001321358.2",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1253C>T",
"hgvs_p": "p.Pro418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308287.1",
"strand": true,
"transcript": "NM_001321358.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 543,
"aa_ref": "P",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001321359.2",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1253C>T",
"hgvs_p": "p.Pro418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308288.1",
"strand": true,
"transcript": "NM_001321359.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 543,
"aa_ref": "P",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2174,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000379863.7",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1253C>T",
"hgvs_p": "p.Pro418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369192.3",
"strand": true,
"transcript": "ENST00000379863.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 543,
"aa_ref": "P",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000857545.1",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1253C>T",
"hgvs_p": "p.Pro418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527604.1",
"strand": true,
"transcript": "ENST00000857545.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 542,
"aa_ref": "P",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1250,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001321361.2",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Pro417Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308290.1",
"strand": true,
"transcript": "NM_001321361.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 2061,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001321357.2",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308286.1",
"strand": true,
"transcript": "NM_001321357.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 2061,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000233557.7",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000233557.3",
"strand": true,
"transcript": "ENST00000233557.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857552.1",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527611.1",
"strand": true,
"transcript": "ENST00000857552.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000857553.1",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527612.1",
"strand": true,
"transcript": "ENST00000857553.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2239,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000923196.1",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593255.1",
"strand": true,
"transcript": "ENST00000923196.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000955633.1",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625692.1",
"strand": true,
"transcript": "ENST00000955633.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1226,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001321362.2",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1226C>T",
"hgvs_p": "p.Pro409Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308291.1",
"strand": true,
"transcript": "NM_001321362.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1226,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857546.1",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1226C>T",
"hgvs_p": "p.Pro409Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527605.1",
"strand": true,
"transcript": "ENST00000857546.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2188,
"cdna_start": 1367,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1226,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857547.1",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1226C>T",
"hgvs_p": "p.Pro409Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527606.1",
"strand": true,
"transcript": "ENST00000857547.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1226,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857549.1",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1226C>T",
"hgvs_p": "p.Pro409Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527608.1",
"strand": true,
"transcript": "ENST00000857549.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1226,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000955637.1",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1226C>T",
"hgvs_p": "p.Pro409Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625696.1",
"strand": true,
"transcript": "ENST00000955637.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 533,
"aa_ref": "P",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1223,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000923195.1",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Pro408Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593254.1",
"strand": true,
"transcript": "ENST00000923195.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 532,
"aa_ref": "P",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000923193.1",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593252.1",
"strand": true,
"transcript": "ENST00000923193.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 530,
"aa_ref": "P",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857548.1",
"gene_hgnc_id": 7993,
"gene_symbol": "NRBP1",
"hgvs_c": "c.1229C>T",
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