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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: 9-35062335-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35062335&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "VCP",
"hgnc_id": 12666,
"hgvs_c": "c.827G>C",
"hgvs_p": "p.Ser276Thr",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_007126.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9602,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.25,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8834382891654968,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 806,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 2421,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_007126.5",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.827G>C",
"hgvs_p": "p.Ser276Thr",
"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": "T",
"aa_end": null,
"aa_length": 806,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 2421,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000358901.11",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.827G>C",
"hgvs_p": "p.Ser276Thr",
"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": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": 1104,
"cds_end": null,
"cds_length": 2514,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969527.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.827G>C",
"hgvs_p": "p.Ser276Thr",
"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": "T",
"aa_end": null,
"aa_length": 805,
"aa_ref": "S",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 2418,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940607.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Ser275Thr",
"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": "T",
"aa_end": null,
"aa_length": 805,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 2418,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969526.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.827G>C",
"hgvs_p": "p.Ser276Thr",
"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": "T",
"aa_end": null,
"aa_length": 804,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4404,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 2415,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000677257.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.821G>C",
"hgvs_p": "p.Ser274Thr",
"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": "T",
"aa_end": null,
"aa_length": 804,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4476,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 2415,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969525.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.821G>C",
"hgvs_p": "p.Ser274Thr",
"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": "T",
"aa_end": null,
"aa_length": 799,
"aa_ref": "S",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3232,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 2400,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969528.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Ser269Thr",
"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": "T",
"aa_end": null,
"aa_length": 791,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 2376,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969529.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.827G>C",
"hgvs_p": "p.Ser276Thr",
"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": "T",
"aa_end": null,
"aa_length": 785,
"aa_ref": "S",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 2358,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940608.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Ser255Thr",
"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": "T",
"aa_end": null,
"aa_length": 776,
"aa_ref": "S",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 2331,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854255.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.737G>C",
"hgvs_p": "p.Ser246Thr",
"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": "T",
"aa_end": null,
"aa_length": 772,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6033,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 2319,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000679902.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.827G>C",
"hgvs_p": "p.Ser276Thr",
"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
},
{
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"aa_length": 765,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 2298,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854254.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.827G>C",
"hgvs_p": "p.Ser276Thr",
"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": "T",
"aa_end": null,
"aa_length": 761,
"aa_ref": "S",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 2286,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354927.2",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.692G>C",
"hgvs_p": "p.Ser231Thr",
"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": "T",
"aa_end": null,
"aa_length": 761,
"aa_ref": "S",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4326,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 2286,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354928.2",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.692G>C",
"hgvs_p": "p.Ser231Thr",
"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": "T",
"aa_end": null,
"aa_length": 761,
"aa_ref": "S",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 2286,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000417448.2",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.692G>C",
"hgvs_p": "p.Ser231Thr",
"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": "T",
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"aa_length": 761,
"aa_ref": "S",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 2286,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000448530.6",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.692G>C",
"hgvs_p": "p.Ser231Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392088.2",
"strand": false,
"transcript": "ENST00000448530.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1027,
"cds_end": null,
"cds_length": 2286,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000678650.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.692G>C",
"hgvs_p": "p.Ser231Thr",
"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": "T",
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"aa_length": 760,
"aa_ref": "S",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 2283,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000679862.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.692G>C",
"hgvs_p": "p.Ser231Thr",
"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": "T",
"aa_end": null,
"aa_length": 754,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 2265,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000681335.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.827G>C",
"hgvs_p": "p.Ser276Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505230.1",
"strand": false,
"transcript": "ENST00000681335.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 735,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 2208,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854256.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.827G>C",
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