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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: 13-32427991-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=32427991&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 32427991,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001353627.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "NM_052818.3",
"protein_id": "NP_438169.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 243,
"cds_start": 92,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380130.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052818.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "ENST00000380130.7",
"protein_id": "ENSP00000369473.2",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 243,
"cds_start": 92,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052818.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380130.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "ENST00000380133.6",
"protein_id": "ENSP00000369476.2",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 243,
"cds_start": 92,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380133.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "ENST00000380139.8",
"protein_id": "ENSP00000369484.3",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 173,
"cds_start": 92,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380139.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "NM_001353627.2",
"protein_id": "NP_001340556.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 335,
"cds_start": 92,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353627.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "NM_001353628.2",
"protein_id": "NP_001340557.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 265,
"cds_start": 92,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353628.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "NM_001286459.2",
"protein_id": "NP_001273388.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 243,
"cds_start": 92,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286459.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "ENST00000970430.1",
"protein_id": "ENSP00000640489.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 242,
"cds_start": 92,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970430.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "ENST00000970429.1",
"protein_id": "ENSP00000640488.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 217,
"cds_start": 92,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970429.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "NM_001353630.2",
"protein_id": "NP_001340559.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 204,
"cds_start": 92,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353630.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "NM_001353632.2",
"protein_id": "NP_001340561.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 188,
"cds_start": 92,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353632.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "NM_001286460.2",
"protein_id": "NP_001273389.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 181,
"cds_start": 92,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286460.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "NM_001286461.2",
"protein_id": "NP_001273390.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 181,
"cds_start": 92,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286461.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "NM_001079691.2",
"protein_id": "NP_001073159.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 173,
"cds_start": 92,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079691.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "ENST00000613078.4",
"protein_id": "ENSP00000483310.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 173,
"cds_start": 92,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613078.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.23G>A",
"hgvs_p": "p.Arg8Gln",
"transcript": "ENST00000635608.1",
"protein_id": "ENSP00000489423.1",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 165,
"cds_start": 23,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635608.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.23G>A",
"hgvs_p": "p.Arg8Gln",
"transcript": "ENST00000495479.5",
"protein_id": "ENSP00000475237.1",
"transcript_support_level": 2,
"aa_start": 8,
"aa_end": null,
"aa_length": 158,
"cds_start": 23,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495479.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "NM_001353634.2",
"protein_id": "NP_001340563.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 150,
"cds_start": 92,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353634.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "NM_001353635.2",
"protein_id": "NP_001340564.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 139,
"cds_start": 92,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353635.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "NM_001353636.2",
"protein_id": "NP_001340565.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353636.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "NM_001353637.2",
"protein_id": "NP_001340566.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 101,
"cds_start": 92,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353637.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.23G>A",
"hgvs_p": "p.Arg8Gln",
"transcript": "ENST00000464470.1",
"protein_id": "ENSP00000475443.1",
"transcript_support_level": 2,
"aa_start": 8,
"aa_end": null,
"aa_length": 78,
"cds_start": 23,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000461502.1",
"gene_symbol": "ENSG00000270008",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.167-2036G>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000783516.1",
"gene_symbol": "ENSG00000302030",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.251-724C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}