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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: 1-23804451-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23804451&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23804451,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_000191.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Asn275Asn",
"transcript": "NM_000191.3",
"protein_id": "NP_000182.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 325,
"cds_start": 825,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374490.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000191.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Asn275Asn",
"transcript": "ENST00000374490.8",
"protein_id": "ENSP00000363614.3",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 325,
"cds_start": 825,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000191.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374490.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "n.516C>T",
"hgvs_p": null,
"transcript": "ENST00000509389.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000509389.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.957C>T",
"hgvs_p": "p.Asn319Asn",
"transcript": "ENST00000892104.1",
"protein_id": "ENSP00000562163.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 369,
"cds_start": 957,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892104.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Asn275Asn",
"transcript": "ENST00000892105.1",
"protein_id": "ENSP00000562164.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 354,
"cds_start": 825,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892105.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asn304Asn",
"transcript": "ENST00000892109.1",
"protein_id": "ENSP00000562168.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 354,
"cds_start": 912,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892109.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.909C>T",
"hgvs_p": "p.Asn303Asn",
"transcript": "ENST00000892119.1",
"protein_id": "ENSP00000562178.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 353,
"cds_start": 909,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892119.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Asn302Asn",
"transcript": "ENST00000892118.1",
"protein_id": "ENSP00000562177.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 352,
"cds_start": 906,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892118.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.849C>T",
"hgvs_p": "p.Asn283Asn",
"transcript": "ENST00000967921.1",
"protein_id": "ENSP00000637980.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 333,
"cds_start": 849,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967921.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.816C>T",
"hgvs_p": "p.Asn272Asn",
"transcript": "ENST00000892115.1",
"protein_id": "ENSP00000562174.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 322,
"cds_start": 816,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892115.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.801C>T",
"hgvs_p": "p.Asn267Asn",
"transcript": "ENST00000892102.1",
"protein_id": "ENSP00000562161.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 317,
"cds_start": 801,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892102.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.768C>T",
"hgvs_p": "p.Asn256Asn",
"transcript": "ENST00000967924.1",
"protein_id": "ENSP00000637983.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 306,
"cds_start": 768,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967924.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Asn247Asn",
"transcript": "ENST00000892107.1",
"protein_id": "ENSP00000562166.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 297,
"cds_start": 741,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892107.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.729C>T",
"hgvs_p": "p.Asn243Asn",
"transcript": "ENST00000967922.1",
"protein_id": "ENSP00000637981.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 293,
"cds_start": 729,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967922.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.717C>T",
"hgvs_p": "p.Asn239Asn",
"transcript": "ENST00000892103.1",
"protein_id": "ENSP00000562162.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 289,
"cds_start": 717,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892103.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.717C>T",
"hgvs_p": "p.Asn239Asn",
"transcript": "ENST00000892106.1",
"protein_id": "ENSP00000562165.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 289,
"cds_start": 717,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892106.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.717C>T",
"hgvs_p": "p.Asn239Asn",
"transcript": "ENST00000892114.1",
"protein_id": "ENSP00000562173.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 289,
"cds_start": 717,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892114.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "ENST00000892112.1",
"protein_id": "ENSP00000562171.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 262,
"cds_start": 636,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892112.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Asn211Asn",
"transcript": "ENST00000967923.1",
"protein_id": "ENSP00000637982.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 261,
"cds_start": 633,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967923.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Asn207Asn",
"transcript": "ENST00000892110.1",
"protein_id": "ENSP00000562169.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 257,
"cds_start": 621,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892110.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.612C>T",
"hgvs_p": "p.Asn204Asn",
"transcript": "NM_001166059.2",
"protein_id": "NP_001159531.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 254,
"cds_start": 612,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166059.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCL",
"gene_hgnc_id": 5005,
"hgvs_c": "c.612C>T",
"hgvs_p": "p.Asn204Asn",
"transcript": "ENST00000436439.6",
"protein_id": "ENSP00000389281.2",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 254,
"cds_start": 612,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"bayesdelnoaf_score": -0.55,
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{
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"phenotype_combined": "Deficiency of hydroxymethylglutaryl-CoA lyase",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}