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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: 8-89946173-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=89946173&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NBN",
"hgnc_id": 7652,
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Tyr679Tyr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -11,
"transcript": "NM_002485.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "8",
"clinvar_classification": "Likely benign",
"clinvar_disease": " normal intelligence and immunodeficiency,Hereditary cancer-predisposing syndrome,Microcephaly,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6399999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 754,
"aa_ref": "Y",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4622,
"cdna_start": 2143,
"cds_end": null,
"cds_length": 2265,
"cds_start": 2037,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_002485.5",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Tyr679Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265433.8",
"protein_coding": true,
"protein_id": "NP_002476.2",
"strand": false,
"transcript": "NM_002485.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 754,
"aa_ref": "Y",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4622,
"cdna_start": 2143,
"cds_end": null,
"cds_length": 2265,
"cds_start": 2037,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000265433.8",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Tyr679Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002485.5",
"protein_coding": true,
"protein_id": "ENSP00000265433.4",
"strand": false,
"transcript": "ENST00000265433.8",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 782,
"aa_ref": "Y",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4409,
"cdna_start": 2147,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2037,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000697309.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Tyr679Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513244.1",
"strand": false,
"transcript": "ENST00000697309.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 771,
"aa_ref": "Y",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7028,
"cdna_start": 2147,
"cds_end": null,
"cds_length": 2316,
"cds_start": 2037,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000697293.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Tyr679Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513230.1",
"strand": false,
"transcript": "ENST00000697293.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 754,
"aa_ref": "Y",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 2265,
"cds_start": 2037,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000697292.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Tyr679Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513229.1",
"strand": false,
"transcript": "ENST00000697292.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 754,
"aa_ref": "Y",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 2265,
"cds_start": 2037,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000697310.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Tyr679Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513245.1",
"strand": false,
"transcript": "ENST00000697310.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 754,
"aa_ref": "Y",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3358,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 2265,
"cds_start": 2037,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969898.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Tyr679Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639957.1",
"strand": false,
"transcript": "ENST00000969898.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 752,
"aa_ref": "Y",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4438,
"cdna_start": 2134,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2031,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969900.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.2031T>C",
"hgvs_p": "p.Tyr677Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639959.1",
"strand": false,
"transcript": "ENST00000969900.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 748,
"aa_ref": "Y",
"aa_start": 673,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 2247,
"cds_start": 2019,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000915948.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.2019T>C",
"hgvs_p": "p.Tyr673Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586007.1",
"strand": false,
"transcript": "ENST00000915948.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 731,
"aa_ref": "Y",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5900,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1968,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000697308.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.1968T>C",
"hgvs_p": "p.Tyr656Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513243.1",
"strand": false,
"transcript": "ENST00000697308.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 716,
"aa_ref": "Y",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4545,
"cdna_start": 2174,
"cds_end": null,
"cds_length": 2151,
"cds_start": 2037,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969899.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Tyr679Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639958.1",
"strand": false,
"transcript": "ENST00000969899.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 672,
"aa_ref": "Y",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4672,
"cdna_start": 2193,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1791,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001024688.3",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.1791T>C",
"hgvs_p": "p.Tyr597Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001019859.1",
"strand": false,
"transcript": "NM_001024688.3",
"transcript_support_level": null
},
{
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"aa_length": 672,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4543,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1791,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001440379.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.1791T>C",
"hgvs_p": "p.Tyr597Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427308.1",
"strand": false,
"transcript": "NM_001440379.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 672,
"aa_ref": "Y",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4593,
"cdna_start": 2114,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1791,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001440380.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.1791T>C",
"hgvs_p": "p.Tyr597Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427309.1",
"strand": false,
"transcript": "NM_001440380.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 672,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4523,
"cdna_start": 2197,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1791,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000409330.5",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.1791T>C",
"hgvs_p": "p.Tyr597Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386924.1",
"strand": false,
"transcript": "ENST00000409330.5",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 672,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6895,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1791,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000517337.2",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.1791T>C",
"hgvs_p": "p.Tyr597Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429971.2",
"strand": false,
"transcript": "ENST00000517337.2",
"transcript_support_level": 4
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 672,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 2250,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1791,
"consequences": [
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],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000523444.2",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.1791T>C",
"hgvs_p": "p.Tyr597Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428252.2",
"strand": false,
"transcript": "ENST00000523444.2",
"transcript_support_level": 4
},
{
"aa_alt": "Y",
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"aa_length": 672,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7186,
"cdna_start": 2376,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1791,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000697298.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.1791T>C",
"hgvs_p": "p.Tyr597Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513234.1",
"strand": false,
"transcript": "ENST00000697298.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 672,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6819,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1791,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000697299.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.1791T>C",
"hgvs_p": "p.Tyr597Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513235.1",
"strand": false,
"transcript": "ENST00000697299.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 650,
"aa_ref": "Y",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6645,
"cdna_start": 1835,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1725,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000697304.1",
"gene_hgnc_id": 7652,
"gene_symbol": "NBN",
"hgvs_c": "c.1725T>C",
"hgvs_p": "p.Tyr575Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513240.1",
"strand": false,
"transcript": "ENST00000697304.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Y",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4219,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1158,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
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