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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: 1-23808222-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23808222&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 15,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "HMGCL",
"hgnc_id": 5005,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Val221Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -15,
"transcript": "NM_000191.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1",
"acmg_score": -15,
"allele_count_reference_population": 195,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Deficiency of hydroxymethylglutaryl-CoA lyase,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10300000011920929,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 325,
"aa_ref": "V",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 677,
"cds_end": null,
"cds_length": 978,
"cds_start": 663,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000191.3",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Val221Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374490.8",
"protein_coding": true,
"protein_id": "NP_000182.2",
"strand": false,
"transcript": "NM_000191.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 325,
"aa_ref": "V",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 677,
"cds_end": null,
"cds_length": 978,
"cds_start": 663,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000374490.8",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Val221Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000191.3",
"protein_coding": true,
"protein_id": "ENSP00000363614.3",
"strand": false,
"transcript": "ENST00000374490.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000509389.5",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "n.361-7C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000509389.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 369,
"aa_ref": "V",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1110,
"cds_start": 663,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000892104.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Val221Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562163.1",
"strand": false,
"transcript": "ENST00000892104.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 354,
"aa_ref": "V",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1065,
"cds_start": 663,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000892105.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Val221Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562164.1",
"strand": false,
"transcript": "ENST00000892105.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 354,
"aa_ref": "V",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1678,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1065,
"cds_start": 750,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000892109.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.750C>T",
"hgvs_p": "p.Val250Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562168.1",
"strand": false,
"transcript": "ENST00000892109.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 353,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1655,
"cdna_start": 765,
"cds_end": null,
"cds_length": 1062,
"cds_start": 747,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000892119.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.747C>T",
"hgvs_p": "p.Val249Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562178.1",
"strand": false,
"transcript": "ENST00000892119.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 352,
"aa_ref": "V",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1059,
"cds_start": 744,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000892118.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.744C>T",
"hgvs_p": "p.Val248Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562177.1",
"strand": false,
"transcript": "ENST00000892118.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 333,
"aa_ref": "V",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 577,
"cds_end": null,
"cds_length": 1002,
"cds_start": 555,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967921.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.555C>T",
"hgvs_p": "p.Val185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637980.1",
"strand": false,
"transcript": "ENST00000967921.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 322,
"aa_ref": "V",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1579,
"cdna_start": 682,
"cds_end": null,
"cds_length": 969,
"cds_start": 654,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000892115.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.654C>T",
"hgvs_p": "p.Val218Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562174.1",
"strand": false,
"transcript": "ENST00000892115.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 317,
"aa_ref": "V",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 719,
"cds_end": null,
"cds_length": 954,
"cds_start": 639,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000892102.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.639C>T",
"hgvs_p": "p.Val213Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562161.1",
"strand": false,
"transcript": "ENST00000892102.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 306,
"aa_ref": "V",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1520,
"cdna_start": 473,
"cds_end": null,
"cds_length": 921,
"cds_start": 450,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000967924.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.450C>T",
"hgvs_p": "p.Val150Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637983.1",
"strand": false,
"transcript": "ENST00000967924.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 297,
"aa_ref": "V",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1508,
"cdna_start": 607,
"cds_end": null,
"cds_length": 894,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892107.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Val193Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562166.1",
"strand": false,
"transcript": "ENST00000892107.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 293,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": 589,
"cds_end": null,
"cds_length": 882,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967922.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Val189Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637981.1",
"strand": false,
"transcript": "ENST00000967922.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 289,
"aa_ref": "V",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1485,
"cdna_start": 584,
"cds_end": null,
"cds_length": 870,
"cds_start": 555,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892106.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.555C>T",
"hgvs_p": "p.Val185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562165.1",
"strand": false,
"transcript": "ENST00000892106.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 289,
"aa_ref": "V",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1482,
"cdna_start": 583,
"cds_end": null,
"cds_length": 870,
"cds_start": 555,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892114.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.555C>T",
"hgvs_p": "p.Val185Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562173.1",
"strand": false,
"transcript": "ENST00000892114.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 283,
"aa_ref": "V",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1465,
"cdna_start": 691,
"cds_end": null,
"cds_length": 852,
"cds_start": 663,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000892111.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Val221Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562170.1",
"strand": false,
"transcript": "ENST00000892111.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": 498,
"cds_end": null,
"cds_length": 786,
"cds_start": 471,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000967923.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Val157Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637982.1",
"strand": false,
"transcript": "ENST00000967923.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 257,
"aa_ref": "V",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": 487,
"cds_end": null,
"cds_length": 774,
"cds_start": 459,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892110.1",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.459C>T",
"hgvs_p": "p.Val153Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562169.1",
"strand": false,
"transcript": "ENST00000892110.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 254,
"aa_ref": "V",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1357,
"cdna_start": 464,
"cds_end": null,
"cds_length": 765,
"cds_start": 450,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001166059.2",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.450C>T",
"hgvs_p": "p.Val150Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159531.1",
"strand": false,
"transcript": "NM_001166059.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 254,
"aa_ref": "V",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1354,
"cdna_start": 463,
"cds_end": null,
"cds_length": 765,
"cds_start": 450,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000436439.6",
"gene_hgnc_id": 5005,
"gene_symbol": "HMGCL",
"hgvs_c": "c.450C>T",
"hgvs_p": "p.Val150Val",
"intron_rank": null,
"intron_rank_end": null,
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