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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: 17-29615784-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=29615784&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": "CORO6",
"hgnc_id": 21356,
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Arg456His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_032854.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ABHD15-AS1",
"hgnc_id": 49685,
"hgvs_c": "n.153+55085C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000581474.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.422,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4573768377304077,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_032854.4",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Arg456His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000388767.8",
"protein_coding": true,
"protein_id": "NP_116243.2",
"strand": false,
"transcript": "NM_032854.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000388767.8",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Arg456His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032854.4",
"protein_coding": true,
"protein_id": "ENSP00000373419.3",
"strand": false,
"transcript": "ENST00000388767.8",
"transcript_support_level": 2
},
{
"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": 1581,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000480954.6",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "n.*692G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464621.1",
"strand": false,
"transcript": "ENST00000480954.6",
"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": 1581,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000480954.6",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "n.*692G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464621.1",
"strand": false,
"transcript": "ENST00000480954.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2616,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001388431.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Arg456His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375360.1",
"strand": false,
"transcript": "NM_001388431.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 1581,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000345068.9",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Arg456His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344562.5",
"strand": false,
"transcript": "ENST00000345068.9",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 1591,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001388433.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375362.1",
"strand": false,
"transcript": "NM_001388433.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 1652,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001388434.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375363.1",
"strand": false,
"transcript": "NM_001388434.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1416,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000584969.5",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462627.1",
"strand": false,
"transcript": "ENST00000584969.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000892807.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562866.1",
"strand": false,
"transcript": "ENST00000892807.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000892809.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562868.1",
"strand": false,
"transcript": "ENST00000892809.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000892817.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562876.1",
"strand": false,
"transcript": "ENST00000892817.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000892818.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562877.1",
"strand": false,
"transcript": "ENST00000892818.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967506.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637565.1",
"strand": false,
"transcript": "ENST00000967506.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2671,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967500.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1361G>A",
"hgvs_p": "p.Arg454His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637559.1",
"strand": false,
"transcript": "ENST00000967500.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967501.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1361G>A",
"hgvs_p": "p.Arg454His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637560.1",
"strand": false,
"transcript": "ENST00000967501.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967511.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1361G>A",
"hgvs_p": "p.Arg454His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637570.1",
"strand": false,
"transcript": "ENST00000967511.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 469,
"aa_ref": "R",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2673,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967496.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1358G>A",
"hgvs_p": "p.Arg453His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637555.1",
"strand": false,
"transcript": "ENST00000967496.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 469,
"aa_ref": "R",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967503.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1358G>A",
"hgvs_p": "p.Arg453His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637562.1",
"strand": false,
"transcript": "ENST00000967503.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 466,
"aa_ref": "R",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000892815.1",
"gene_hgnc_id": 21356,
"gene_symbol": "CORO6",
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562874.1",
"strand": false,
"transcript": "ENST00000892815.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 446,
"aa_ref": "R",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 1341,
"cds_start": 1289,
"consequences": [
"missense_variant"
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