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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: 8-42187436-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42187436&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 15,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PLAT",
"hgnc_id": 9051,
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Asp167Asp",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -15,
"transcript": "NM_000930.5",
"verdict": "Benign"
},
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000304994",
"hgnc_id": null,
"hgvs_c": "n.115+7259G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -14,
"transcript": "ENST00000807592.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BA1",
"acmg_score": -15,
"allele_count_reference_population": 896578,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 562,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 599,
"cds_end": null,
"cds_length": 1689,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000930.5",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Asp167Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000220809.9",
"protein_coding": true,
"protein_id": "NP_000921.1",
"strand": false,
"transcript": "NM_000930.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 562,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 599,
"cds_end": null,
"cds_length": 1689,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000220809.9",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Asp167Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000930.5",
"protein_coding": true,
"protein_id": "ENSP00000220809.4",
"strand": false,
"transcript": "ENST00000220809.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 572,
"cds_end": null,
"cds_length": 1551,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000352041.7",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Asp121Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000270188.6",
"strand": false,
"transcript": "ENST00000352041.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3462,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000521647.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "n.721C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000521647.1",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 583,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1752,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000679300.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Asp167Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503050.1",
"strand": false,
"transcript": "ENST00000679300.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 583,
"aa_ref": "D",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2607,
"cdna_start": 662,
"cds_end": null,
"cds_length": 1752,
"cds_start": 564,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000884025.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.564C>T",
"hgvs_p": "p.Asp188Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554084.1",
"strand": false,
"transcript": "ENST00000884025.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 562,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 651,
"cds_end": null,
"cds_length": 1689,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000429089.6",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Asp167Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392045.2",
"strand": false,
"transcript": "ENST00000429089.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 562,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1689,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000679151.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Asp167Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504311.1",
"strand": false,
"transcript": "ENST00000679151.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 562,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1689,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000884022.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Asp167Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554081.1",
"strand": false,
"transcript": "ENST00000884022.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 562,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1689,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884023.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Asp167Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554082.1",
"strand": false,
"transcript": "ENST00000884023.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 562,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1689,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915840.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Asp167Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585899.1",
"strand": false,
"transcript": "ENST00000915840.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 562,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1689,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944405.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Asp167Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614464.1",
"strand": false,
"transcript": "ENST00000944405.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 461,
"cds_end": null,
"cds_length": 1551,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_033011.4",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Asp121Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_127509.1",
"strand": false,
"transcript": "NM_033011.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 474,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": 599,
"cds_end": null,
"cds_length": 1425,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944404.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Asp167Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614463.1",
"strand": false,
"transcript": "ENST00000944404.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 177,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 670,
"cdna_start": 635,
"cds_end": null,
"cds_length": 536,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000520523.5",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Asp167Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428797.1",
"strand": false,
"transcript": "ENST00000520523.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 499,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": null,
"cds_end": null,
"cds_length": 1500,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000519510.5",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.364+470C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428886.1",
"strand": false,
"transcript": "ENST00000519510.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 473,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2795,
"cdna_start": null,
"cds_end": null,
"cds_length": 1422,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001319189.2",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.364+470C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306118.1",
"strand": false,
"transcript": "NM_001319189.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1422,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000524009.5",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.364+470C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429401.1",
"strand": false,
"transcript": "ENST00000524009.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 436,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1655,
"cdna_start": null,
"cds_end": null,
"cds_length": 1311,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000429710.6",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.253+1498C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407861.2",
"strand": false,
"transcript": "ENST00000429710.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 390,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": null,
"cds_end": null,
"cds_length": 1173,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884024.1",
"gene_hgnc_id": 9051,
"gene_symbol": "PLAT",
"hgvs_c": "c.115+3936C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554083.1",
"strand": false,
"transcript": "ENST00000884024.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 604,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
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