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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: 2-189805692-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189805692&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PMS1",
"hgnc_id": 9121,
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_000534.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2382,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6322301030158997,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 520,
"cds_end": null,
"cds_length": 2799,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000534.5",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000441310.7",
"protein_coding": true,
"protein_id": "NP_000525.1",
"strand": true,
"transcript": "NM_000534.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 520,
"cds_end": null,
"cds_length": 2799,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000441310.7",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000534.5",
"protein_coding": true,
"protein_id": "ENSP00000406490.3",
"strand": true,
"transcript": "ENST00000441310.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 165,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 948,
"cdna_start": 462,
"cds_end": null,
"cds_length": 498,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000374826.8",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363959.4",
"strand": true,
"transcript": "ENST00000374826.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000424059.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "n.356C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000424059.1",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 968,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3271,
"cdna_start": 527,
"cds_end": null,
"cds_length": 2907,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921104.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591163.1",
"strand": true,
"transcript": "ENST00000921104.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 953,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 456,
"cds_end": null,
"cds_length": 2862,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921113.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591172.1",
"strand": true,
"transcript": "ENST00000921113.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 940,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3164,
"cdna_start": 492,
"cds_end": null,
"cds_length": 2823,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921105.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591164.1",
"strand": true,
"transcript": "ENST00000921105.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 646,
"cds_end": null,
"cds_length": 2799,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321045.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307974.1",
"strand": true,
"transcript": "NM_001321045.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3333,
"cdna_start": 697,
"cds_end": null,
"cds_length": 2799,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001321047.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307976.1",
"strand": true,
"transcript": "NM_001321047.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": 617,
"cds_end": null,
"cds_length": 2799,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321048.2",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307977.1",
"strand": true,
"transcript": "NM_001321048.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3908,
"cdna_start": 516,
"cds_end": null,
"cds_length": 2799,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899827.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569886.1",
"strand": true,
"transcript": "ENST00000899827.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 730,
"cds_end": null,
"cds_length": 2799,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899828.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569887.1",
"strand": true,
"transcript": "ENST00000899828.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 617,
"cds_end": null,
"cds_length": 2799,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000899829.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569888.1",
"strand": true,
"transcript": "ENST00000899829.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 481,
"cds_end": null,
"cds_length": 2799,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899832.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569891.1",
"strand": true,
"transcript": "ENST00000899832.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": 776,
"cds_end": null,
"cds_length": 2799,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921101.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591160.1",
"strand": true,
"transcript": "ENST00000921101.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3297,
"cdna_start": 651,
"cds_end": null,
"cds_length": 2799,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000921103.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591162.1",
"strand": true,
"transcript": "ENST00000921103.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6596,
"cdna_start": 3966,
"cds_end": null,
"cds_length": 2799,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921115.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591174.1",
"strand": true,
"transcript": "ENST00000921115.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": 623,
"cds_end": null,
"cds_length": 2799,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000961092.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631151.1",
"strand": true,
"transcript": "ENST00000961092.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 931,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 483,
"cds_end": null,
"cds_length": 2796,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921111.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591170.1",
"strand": true,
"transcript": "ENST00000921111.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 915,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 500,
"cds_end": null,
"cds_length": 2748,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921109.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591168.1",
"strand": true,
"transcript": "ENST00000921109.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 901,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 491,
"cds_end": null,
"cds_length": 2706,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961091.1",
"gene_hgnc_id": 9121,
"gene_symbol": "PMS1",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Thr119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"phylop100way_prediction": "Benign",
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"pos": 189805692,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.642,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_000534.5"
}
]
}