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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: 9-35059793-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35059793&ref=T&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": "VCP",
"hgnc_id": 12666,
"hgvs_c": "c.1704A>T",
"hgvs_p": "p.Gln568His",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_007126.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.6505,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5523480176925659,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 806,
"aa_ref": "Q",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": 1976,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1704,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_007126.5",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1704A>T",
"hgvs_p": "p.Gln568His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358901.11",
"protein_coding": true,
"protein_id": "NP_009057.1",
"strand": false,
"transcript": "NM_007126.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 806,
"aa_ref": "Q",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": 1976,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1704,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000358901.11",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1704A>T",
"hgvs_p": "p.Gln568His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007126.5",
"protein_coding": true,
"protein_id": "ENSP00000351777.6",
"strand": false,
"transcript": "ENST00000358901.11",
"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": 1159,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000479300.2",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "n.232A>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": "ENST00000479300.2",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1797,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000969527.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1797A>T",
"hgvs_p": "p.Gln599His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639586.1",
"strand": false,
"transcript": "ENST00000969527.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Q",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1701,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000940607.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1701A>T",
"hgvs_p": "p.Gln567His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610666.1",
"strand": false,
"transcript": "ENST00000940607.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Q",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 2022,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1704,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000969526.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1704A>T",
"hgvs_p": "p.Gln568His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639585.1",
"strand": false,
"transcript": "ENST00000969526.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 804,
"aa_ref": "Q",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4404,
"cdna_start": 1946,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1698,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000677257.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1698A>T",
"hgvs_p": "p.Gln566His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504354.1",
"strand": false,
"transcript": "ENST00000677257.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 804,
"aa_ref": "Q",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4476,
"cdna_start": 1999,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1698,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000969525.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1698A>T",
"hgvs_p": "p.Gln566His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639584.1",
"strand": false,
"transcript": "ENST00000969525.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 799,
"aa_ref": "Q",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3232,
"cdna_start": 1956,
"cds_end": null,
"cds_length": 2400,
"cds_start": 1683,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000969528.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1683A>T",
"hgvs_p": "p.Gln561His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639587.1",
"strand": false,
"transcript": "ENST00000969528.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 791,
"aa_ref": "Q",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 1913,
"cds_end": null,
"cds_length": 2376,
"cds_start": 1659,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000969529.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1659A>T",
"hgvs_p": "p.Gln553His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639588.1",
"strand": false,
"transcript": "ENST00000969529.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 785,
"aa_ref": "Q",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 1917,
"cds_end": null,
"cds_length": 2358,
"cds_start": 1641,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000940608.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1641A>T",
"hgvs_p": "p.Gln547His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610667.1",
"strand": false,
"transcript": "ENST00000940608.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 776,
"aa_ref": "Q",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": 1891,
"cds_end": null,
"cds_length": 2331,
"cds_start": 1614,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000854255.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1614A>T",
"hgvs_p": "p.Gln538His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524314.1",
"strand": false,
"transcript": "ENST00000854255.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 772,
"aa_ref": "Q",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6033,
"cdna_start": 1974,
"cds_end": null,
"cds_length": 2319,
"cds_start": 1704,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000679902.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1704A>T",
"hgvs_p": "p.Gln568His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506338.1",
"strand": false,
"transcript": "ENST00000679902.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 765,
"aa_ref": "Q",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 2298,
"cds_start": 1581,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000854254.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1581A>T",
"hgvs_p": "p.Gln527His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524313.1",
"strand": false,
"transcript": "ENST00000854254.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 761,
"aa_ref": "Q",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1569,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001354927.2",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1569A>T",
"hgvs_p": "p.Gln523His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341856.1",
"strand": false,
"transcript": "NM_001354927.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 761,
"aa_ref": "Q",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4326,
"cdna_start": 2556,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1569,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001354928.2",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1569A>T",
"hgvs_p": "p.Gln523His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341857.1",
"strand": false,
"transcript": "NM_001354928.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 761,
"aa_ref": "Q",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 2136,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1569,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000417448.2",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1569A>T",
"hgvs_p": "p.Gln523His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399456.2",
"strand": false,
"transcript": "ENST00000417448.2",
"transcript_support_level": 3
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 761,
"aa_ref": "Q",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 2079,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1569,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000448530.6",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1569A>T",
"hgvs_p": "p.Gln523His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392088.2",
"strand": false,
"transcript": "ENST00000448530.6",
"transcript_support_level": 5
},
{
"aa_alt": "H",
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"aa_length": 761,
"aa_ref": "Q",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4362,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1569,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000678650.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1569A>T",
"hgvs_p": "p.Gln523His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503426.1",
"strand": false,
"transcript": "ENST00000678650.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 760,
"aa_ref": "Q",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 1962,
"cds_end": null,
"cds_length": 2283,
"cds_start": 1569,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000679862.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1569A>T",
"hgvs_p": "p.Gln523His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504990.1",
"strand": false,
"transcript": "ENST00000679862.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 754,
"aa_ref": "Q",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": 1976,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1704,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000681335.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.1704A>T",
"hgvs_p": "p.Gln568His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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