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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: 15-73704388-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=73704388&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 73704388,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001024736.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "NM_001024736.2",
"protein_id": "NP_001019907.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318443.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024736.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000318443.10",
"protein_id": "ENSP00000320084.5",
"transcript_support_level": 2,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001024736.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318443.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Val211Leu",
"transcript": "ENST00000564751.5",
"protein_id": "ENSP00000454940.1",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 316,
"cds_start": 631,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564751.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "n.190G>C",
"hgvs_p": null,
"transcript": "ENST00000559073.1",
"protein_id": "ENSP00000453842.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000559073.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000921507.1",
"protein_id": "ENSP00000591566.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 539,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921507.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000864253.1",
"protein_id": "ENSP00000534312.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864253.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000864256.1",
"protein_id": "ENSP00000534315.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864256.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000864257.1",
"protein_id": "ENSP00000534316.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864257.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000864258.1",
"protein_id": "ENSP00000534317.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864258.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000864259.1",
"protein_id": "ENSP00000534318.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864259.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000864260.1",
"protein_id": "ENSP00000534319.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864260.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000864261.1",
"protein_id": "ENSP00000534320.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864261.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000921504.1",
"protein_id": "ENSP00000591563.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921504.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000921505.1",
"protein_id": "ENSP00000591564.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921505.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000921506.1",
"protein_id": "ENSP00000591565.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921506.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000921510.1",
"protein_id": "ENSP00000591569.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921510.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000921512.1",
"protein_id": "ENSP00000591571.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921512.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000953229.1",
"protein_id": "ENSP00000623288.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953229.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000953231.1",
"protein_id": "ENSP00000623290.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953231.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000953232.1",
"protein_id": "ENSP00000623291.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953232.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000953233.1",
"protein_id": "ENSP00000623292.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953233.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD276",
"gene_hgnc_id": 19137,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu",
"transcript": "ENST00000953234.1",
"protein_id": "ENSP00000623293.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 534,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.397,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001024736.2",
"gene_symbol": "CD276",
"hgnc_id": 19137,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Val429Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}