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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: 8-142875819-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=142875819&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 142875819,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000497.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Gln338Gln",
"transcript": "NM_000497.4",
"protein_id": "NP_000488.3",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 503,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292427.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000497.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Gln338Gln",
"transcript": "ENST00000292427.10",
"protein_id": "ENSP00000292427.5",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 503,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000497.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292427.10"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1227G>A",
"hgvs_p": "p.Gln409Gln",
"transcript": "ENST00000377675.3",
"protein_id": "ENSP00000366903.3",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 574,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377675.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Gln338Gln",
"transcript": "ENST00000517471.5",
"protein_id": "ENSP00000428043.1",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 437,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517471.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Gln392Gln",
"transcript": "ENST00000964969.1",
"protein_id": "ENSP00000635028.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 557,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964969.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1152G>A",
"hgvs_p": "p.Gln384Gln",
"transcript": "ENST00000964974.1",
"protein_id": "ENSP00000635033.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 549,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964974.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Gln383Gln",
"transcript": "ENST00000964956.1",
"protein_id": "ENSP00000635015.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 548,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964956.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1140G>A",
"hgvs_p": "p.Gln380Gln",
"transcript": "ENST00000964968.1",
"protein_id": "ENSP00000635027.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 545,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964968.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1092G>A",
"hgvs_p": "p.Gln364Gln",
"transcript": "ENST00000964955.1",
"protein_id": "ENSP00000635014.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 529,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964955.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Gln347Gln",
"transcript": "ENST00000964957.1",
"protein_id": "ENSP00000635016.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 512,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964957.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Gln383Gln",
"transcript": "ENST00000964962.1",
"protein_id": "ENSP00000635021.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 505,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964962.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1005G>A",
"hgvs_p": "p.Gln335Gln",
"transcript": "ENST00000964970.1",
"protein_id": "ENSP00000635029.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 500,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964970.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Gln338Gln",
"transcript": "ENST00000964975.1",
"protein_id": "ENSP00000635034.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 497,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964975.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Gln392Gln",
"transcript": "ENST00000964977.1",
"protein_id": "ENSP00000635036.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 491,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964977.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1152G>A",
"hgvs_p": "p.Gln384Gln",
"transcript": "ENST00000964976.1",
"protein_id": "ENSP00000635035.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 483,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964976.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Gln383Gln",
"transcript": "ENST00000964964.1",
"protein_id": "ENSP00000635023.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 482,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964964.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.924G>A",
"hgvs_p": "p.Gln308Gln",
"transcript": "ENST00000964963.1",
"protein_id": "ENSP00000635022.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 473,
"cds_start": 924,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964963.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Gln306Gln",
"transcript": "ENST00000964967.1",
"protein_id": "ENSP00000635026.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 471,
"cds_start": 918,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964967.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Gln347Gln",
"transcript": "ENST00000964959.1",
"protein_id": "ENSP00000635018.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 469,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964959.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1092G>A",
"hgvs_p": "p.Gln364Gln",
"transcript": "ENST00000964960.1",
"protein_id": "ENSP00000635019.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 463,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964960.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Gln338Gln",
"transcript": "ENST00000964954.1",
"protein_id": "ENSP00000635013.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 460,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964954.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Gln295Gln",
"transcript": "ENST00000964978.1",
"protein_id": "ENSP00000635037.1",
"transcript_support_level": null,
"aa_start": 295,
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:2",
"phenotype_combined": "Glucocorticoid-remediable aldosteronism|Deficiency of steroid 11-beta-monooxygenase|not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}