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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: 9-120402961-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=120402961&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CDK5RAP2",
"hgnc_id": 18672,
"hgvs_c": "c.5152C>T",
"hgvs_p": "p.Leu1718Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_018249.6",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000301087",
"hgnc_id": null,
"hgvs_c": "n.414-11897G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000776055.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1893,
"aa_ref": "L",
"aa_start": 1718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6232,
"cdna_start": 5341,
"cds_end": null,
"cds_length": 5682,
"cds_start": 5152,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_018249.6",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.5152C>T",
"hgvs_p": "p.Leu1718Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000349780.9",
"protein_coding": true,
"protein_id": "NP_060719.4",
"strand": false,
"transcript": "NM_018249.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1893,
"aa_ref": "L",
"aa_start": 1718,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6232,
"cdna_start": 5341,
"cds_end": null,
"cds_length": 5682,
"cds_start": 5152,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000349780.9",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.5152C>T",
"hgvs_p": "p.Leu1718Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018249.6",
"protein_coding": true,
"protein_id": "ENSP00000343818.4",
"strand": false,
"transcript": "ENST00000349780.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1814,
"aa_ref": "L",
"aa_start": 1639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5985,
"cdna_start": 5095,
"cds_end": null,
"cds_length": 5445,
"cds_start": 4915,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000360190.8",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.4915C>T",
"hgvs_p": "p.Leu1639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353317.4",
"strand": false,
"transcript": "ENST00000360190.8",
"transcript_support_level": 1
},
{
"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": 5956,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000473282.6",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "n.*3976C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419265.1",
"strand": false,
"transcript": "ENST00000473282.6",
"transcript_support_level": 1
},
{
"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": 5826,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 38,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000480112.5",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "n.*2979C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000418418.1",
"strand": false,
"transcript": "ENST00000480112.5",
"transcript_support_level": 1
},
{
"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": 5956,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 39,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000473282.6",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "n.*3976C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419265.1",
"strand": false,
"transcript": "ENST00000473282.6",
"transcript_support_level": 1
},
{
"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": 5826,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 38,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000480112.5",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "n.*2979C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000418418.1",
"strand": false,
"transcript": "ENST00000480112.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1892,
"aa_ref": "L",
"aa_start": 1717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6229,
"cdna_start": 5338,
"cds_end": null,
"cds_length": 5679,
"cds_start": 5149,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001410994.1",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.5149C>T",
"hgvs_p": "p.Leu1717Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397923.1",
"strand": false,
"transcript": "NM_001410994.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1892,
"aa_ref": "L",
"aa_start": 1717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6079,
"cdna_start": 5194,
"cds_end": null,
"cds_length": 5679,
"cds_start": 5149,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000687279.1",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.5149C>T",
"hgvs_p": "p.Leu1717Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508692.1",
"strand": false,
"transcript": "ENST00000687279.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1867,
"aa_ref": "L",
"aa_start": 1686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6071,
"cdna_start": 5099,
"cds_end": null,
"cds_length": 5604,
"cds_start": 5056,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000693728.1",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.5056C>T",
"hgvs_p": "p.Leu1686Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510580.1",
"strand": false,
"transcript": "ENST00000693728.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1867,
"aa_ref": "L",
"aa_start": 1692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6146,
"cdna_start": 5255,
"cds_end": null,
"cds_length": 5604,
"cds_start": 5074,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000963700.1",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.5074C>T",
"hgvs_p": "p.Leu1692Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633759.1",
"strand": false,
"transcript": "ENST00000963700.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "L",
"aa_start": 1686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6136,
"cdna_start": 5245,
"cds_end": null,
"cds_length": 5586,
"cds_start": 5056,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001410993.1",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.5056C>T",
"hgvs_p": "p.Leu1686Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397922.1",
"strand": false,
"transcript": "NM_001410993.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "L",
"aa_start": 1686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5667,
"cdna_start": 5099,
"cds_end": null,
"cds_length": 5586,
"cds_start": 5056,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000416449.6",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.5056C>T",
"hgvs_p": "p.Leu1686Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400395.2",
"strand": false,
"transcript": "ENST00000416449.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1860,
"aa_ref": "L",
"aa_start": 1685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6133,
"cdna_start": 5242,
"cds_end": null,
"cds_length": 5583,
"cds_start": 5053,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001410992.1",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.5053C>T",
"hgvs_p": "p.Leu1685Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397921.1",
"strand": false,
"transcript": "NM_001410992.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1860,
"aa_ref": "L",
"aa_start": 1685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5938,
"cdna_start": 5053,
"cds_end": null,
"cds_length": 5583,
"cds_start": 5053,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000687633.1",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.5053C>T",
"hgvs_p": "p.Leu1685Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510289.1",
"strand": false,
"transcript": "ENST00000687633.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1835,
"aa_ref": "L",
"aa_start": 1660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5831,
"cdna_start": 4978,
"cds_end": null,
"cds_length": 5508,
"cds_start": 4978,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000690646.1",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.4978C>T",
"hgvs_p": "p.Leu1660Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510383.1",
"strand": false,
"transcript": "ENST00000690646.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1814,
"aa_ref": "L",
"aa_start": 1639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5995,
"cdna_start": 5104,
"cds_end": null,
"cds_length": 5445,
"cds_start": 4915,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001011649.3",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.4915C>T",
"hgvs_p": "p.Leu1639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001011649.1",
"strand": false,
"transcript": "NM_001011649.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1813,
"aa_ref": "L",
"aa_start": 1638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5986,
"cdna_start": 5095,
"cds_end": null,
"cds_length": 5442,
"cds_start": 4912,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000862947.1",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.4912C>T",
"hgvs_p": "p.Leu1638Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533006.1",
"strand": false,
"transcript": "ENST00000862947.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1813,
"aa_ref": "L",
"aa_start": 1638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5671,
"cdna_start": 5106,
"cds_end": null,
"cds_length": 5442,
"cds_start": 4912,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000862948.1",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.4912C>T",
"hgvs_p": "p.Leu1638Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533007.1",
"strand": false,
"transcript": "ENST00000862948.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "L",
"aa_start": 1607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5563,
"cdna_start": 4992,
"cds_end": null,
"cds_length": 5349,
"cds_start": 4819,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000862949.1",
"gene_hgnc_id": 18672,
"gene_symbol": "CDK5RAP2",
"hgvs_c": "c.4819C>T",
"hgvs_p": "p.Leu1607Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533008.1",
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