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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: 18-8391831-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=8391831&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PTPRM",
"hgnc_id": 9675,
"hgvs_c": "c.4209-2645A>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001105244.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 44065,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1465,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5595,
"cdna_start": null,
"cds_end": null,
"cds_length": 4398,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001105244.2",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.4209-2645A>G",
"hgvs_p": null,
"intron_rank": 31,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000580170.6",
"protein_coding": true,
"protein_id": "NP_001098714.1",
"strand": true,
"transcript": "NM_001105244.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1465,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5595,
"cdna_start": null,
"cds_end": null,
"cds_length": 4398,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000580170.6",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.4209-2645A>G",
"hgvs_p": null,
"intron_rank": 31,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001105244.2",
"protein_coding": true,
"protein_id": "ENSP00000463325.1",
"strand": true,
"transcript": "ENST00000580170.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1452,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6095,
"cdna_start": null,
"cds_end": null,
"cds_length": 4359,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000332175.12",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.4170-2645A>G",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000331418.8",
"strand": true,
"transcript": "ENST00000332175.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1452,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5556,
"cdna_start": null,
"cds_end": null,
"cds_length": 4359,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002845.4",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.4170-2645A>G",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002836.3",
"strand": true,
"transcript": "NM_002845.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1390,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5292,
"cdna_start": null,
"cds_end": null,
"cds_length": 4173,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000400053.8",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.3984-2645A>G",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382927.4",
"strand": true,
"transcript": "ENST00000400053.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1294,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4658,
"cdna_start": null,
"cds_end": null,
"cds_length": 3885,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378147.1",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.3696-2645A>G",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365076.1",
"strand": true,
"transcript": "NM_001378147.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4607,
"cdna_start": null,
"cds_end": null,
"cds_length": 3834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378145.1",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.3645-2645A>G",
"hgvs_p": null,
"intron_rank": 28,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365074.1",
"strand": true,
"transcript": "NM_001378145.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1269,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4583,
"cdna_start": null,
"cds_end": null,
"cds_length": 3810,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378146.1",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.3621-2645A>G",
"hgvs_p": null,
"intron_rank": 28,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365075.1",
"strand": true,
"transcript": "NM_001378146.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1264,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": null,
"cds_end": null,
"cds_length": 3795,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378144.1",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.3606-2645A>G",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365073.1",
"strand": true,
"transcript": "NM_001378144.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1252,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": null,
"cds_end": null,
"cds_length": 3759,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378143.1",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.3570-2645A>G",
"hgvs_p": null,
"intron_rank": 27,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365072.1",
"strand": true,
"transcript": "NM_001378143.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": null,
"cds_end": null,
"cds_length": 3720,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378142.1",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.3531-2645A>G",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365071.1",
"strand": true,
"transcript": "NM_001378142.1",
"transcript_support_level": null
},
{
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"aa_length": 279,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": null,
"cds_end": null,
"cds_length": 840,
"cds_start": null,
"consequences": [
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],
"exon_count": 32,
"exon_rank": null,
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"feature": "ENST00000400060.8",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.651-2645A>G",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382933.5",
"strand": true,
"transcript": "ENST00000400060.8",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
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"consequences": [
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],
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"exon_rank": null,
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"feature": "XM_017025894.2",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.4410-2645A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016881383.2",
"strand": true,
"transcript": "XM_017025894.2",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 5295,
"cdna_start": null,
"cds_end": null,
"cds_length": 4587,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025895.2",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.4398-2645A>G",
"hgvs_p": null,
"intron_rank": 32,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881384.2",
"strand": true,
"transcript": "XM_017025895.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 33,
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"feature": "XM_017025896.2",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.4371-2645A>G",
"hgvs_p": null,
"intron_rank": 31,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016881385.2",
"strand": true,
"transcript": "XM_017025896.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
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"feature": "XM_017025897.2",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.4359-2645A>G",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881386.2",
"strand": true,
"transcript": "XM_017025897.2",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5244,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 33,
"exon_rank": null,
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"feature": "XM_017025898.2",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.4347-2645A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016881387.2",
"strand": true,
"transcript": "XM_017025898.2",
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},
{
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"consequences": [
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],
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"feature": "XM_011525708.3",
"gene_hgnc_id": 9675,
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"protein_coding": true,
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"strand": true,
"transcript": "XM_011525708.3",
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},
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"consequences": [
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],
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"feature": "XM_017025899.2",
"gene_hgnc_id": 9675,
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"protein_coding": true,
"protein_id": "XP_016881388.2",
"strand": true,
"transcript": "XM_017025899.2",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025900.2",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.4320-2645A>G",
"hgvs_p": null,
"intron_rank": 30,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881389.2",
"strand": true,
"transcript": "XM_017025900.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 4485,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025901.2",
"gene_hgnc_id": 9675,
"gene_symbol": "PTPRM",
"hgvs_c": "c.4296-2645A>G",
"hgvs_p": null,
"intron_rank": 30,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881390.2",
"strand": true,
"transcript": "XM_017025901.2",
"transcript_support_level": null
},
{
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