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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: 1-248850445-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=248850445&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF692",
"hgnc_id": 26049,
"hgvs_c": "c.1340C>T",
"hgvs_p": "p.Thr447Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001136036.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 150,
"alphamissense_prediction": null,
"alphamissense_score": 0.2065,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "1",
"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": 0.0774717926979065,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 519,
"aa_ref": "T",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_017865.4",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1325C>T",
"hgvs_p": "p.Thr442Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306601.9",
"protein_coding": true,
"protein_id": "NP_060335.2",
"strand": false,
"transcript": "NM_017865.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 519,
"aa_ref": "T",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000306601.9",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1325C>T",
"hgvs_p": "p.Thr442Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017865.4",
"protein_coding": true,
"protein_id": "ENSP00000305483.5",
"strand": false,
"transcript": "ENST00000306601.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 474,
"aa_ref": "T",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000366471.7",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Thr397Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355427.3",
"strand": false,
"transcript": "ENST00000366471.7",
"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": 2704,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000463519.5",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "n.*1570C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436308.1",
"strand": false,
"transcript": "ENST00000463519.5",
"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": 2026,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000533927.5",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "n.1590C>T",
"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": "ENST00000533927.5",
"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": 2704,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000463519.5",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "n.*1570C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436308.1",
"strand": false,
"transcript": "ENST00000463519.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 524,
"aa_ref": "T",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 1911,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001136036.3",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1340C>T",
"hgvs_p": "p.Thr447Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129508.1",
"strand": false,
"transcript": "NM_001136036.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 524,
"aa_ref": "T",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000451251.5",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1340C>T",
"hgvs_p": "p.Thr447Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391200.1",
"strand": false,
"transcript": "ENST00000451251.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 519,
"aa_ref": "T",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000869877.1",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1325C>T",
"hgvs_p": "p.Thr442Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539936.1",
"strand": false,
"transcript": "ENST00000869877.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 519,
"aa_ref": "T",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2374,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000869881.1",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1325C>T",
"hgvs_p": "p.Thr442Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539940.1",
"strand": false,
"transcript": "ENST00000869881.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 519,
"aa_ref": "T",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1976,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000914628.1",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1325C>T",
"hgvs_p": "p.Thr442Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584687.1",
"strand": false,
"transcript": "ENST00000914628.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 519,
"aa_ref": "T",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1934,
"cdna_start": 1494,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000964809.1",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1325C>T",
"hgvs_p": "p.Thr442Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634868.1",
"strand": false,
"transcript": "ENST00000964809.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 518,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1939,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001350072.2",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337001.1",
"strand": false,
"transcript": "NM_001350072.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 518,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1967,
"cdna_start": 1526,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000869878.1",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539937.1",
"strand": false,
"transcript": "ENST00000869878.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 518,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2037,
"cdna_start": 1597,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000964808.1",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634867.1",
"strand": false,
"transcript": "ENST00000964808.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 507,
"aa_ref": "T",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000964812.1",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634871.1",
"strand": false,
"transcript": "ENST00000964812.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 506,
"aa_ref": "T",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1775,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000869880.1",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Thr429Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539939.1",
"strand": false,
"transcript": "ENST00000869880.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 488,
"aa_ref": "T",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1232,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964810.1",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1232C>T",
"hgvs_p": "p.Thr411Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634869.1",
"strand": false,
"transcript": "ENST00000964810.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 487,
"aa_ref": "T",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964811.1",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Thr410Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634870.1",
"strand": false,
"transcript": "ENST00000964811.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 474,
"aa_ref": "T",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001193328.2",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Thr397Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180257.1",
"strand": false,
"transcript": "NM_001193328.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 474,
"aa_ref": "T",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000869876.1",
"gene_hgnc_id": 26049,
"gene_symbol": "ZNF692",
"hgvs_c": "c.1190C>T",
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