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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: 9-85016119-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=85016119&ref=C&alt=T&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": "NTRK2",
"hgnc_id": 8032,
"hgvs_c": "c.2173-4087C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_006180.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 142038,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.95,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.949999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8666,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006180.6",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2173-4087C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000277120.8",
"protein_coding": true,
"protein_id": "NP_006171.2",
"strand": true,
"transcript": "NM_006180.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8666,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000277120.8",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2173-4087C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006180.6",
"protein_coding": true,
"protein_id": "ENSP00000277120.3",
"strand": true,
"transcript": "ENST00000277120.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8723,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000323115.11",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2089-4087C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000314586.5",
"strand": true,
"transcript": "ENST00000323115.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8795,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000686324.1",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2173-4087C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510134.1",
"strand": true,
"transcript": "ENST00000686324.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 822,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8647,
"cdna_start": null,
"cds_end": null,
"cds_length": 2469,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001018064.3",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2125-4087C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001018074.1",
"strand": true,
"transcript": "NM_001018064.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 822,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8931,
"cdna_start": null,
"cds_end": null,
"cds_length": 2469,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369532.1",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2125-4087C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356461.1",
"strand": true,
"transcript": "NM_001369532.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 822,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8722,
"cdna_start": null,
"cds_end": null,
"cds_length": 2469,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369533.1",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2125-4087C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356462.1",
"strand": true,
"transcript": "NM_001369533.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 822,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8693,
"cdna_start": null,
"cds_end": null,
"cds_length": 2469,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376213.6",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2125-4087C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365386.1",
"strand": true,
"transcript": "ENST00000376213.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 822,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8988,
"cdna_start": null,
"cds_end": null,
"cds_length": 2469,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000686259.1",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2125-4087C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509743.1",
"strand": true,
"transcript": "ENST00000686259.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9433,
"cdna_start": null,
"cds_end": null,
"cds_length": 2469,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000686496.1",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2125-4087C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510060.1",
"strand": true,
"transcript": "ENST00000686496.1",
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},
{
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
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"feature": "ENST00000691788.1",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2125-4087C>T",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509401.1",
"strand": true,
"transcript": "ENST00000691788.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000692181.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000510619.1",
"strand": true,
"transcript": "ENST00000692181.1",
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},
{
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],
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"feature": "ENST00000884757.1",
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"hgvs_c": "c.2125-4087C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000554816.1",
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"transcript": "ENST00000884757.1",
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},
{
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"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
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"feature": "ENST00000884758.1",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2125-4087C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000554817.1",
"strand": true,
"transcript": "ENST00000884758.1",
"transcript_support_level": null
},
{
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],
"exon_count": 17,
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"feature": "NM_001369534.1",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2089-4087C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001356463.1",
"strand": true,
"transcript": "NM_001369534.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000687386.1",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2124+60602C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508723.1",
"strand": true,
"transcript": "ENST00000687386.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
"cds_length": 2049,
"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369536.1",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.1705-4087C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001356465.1",
"strand": true,
"transcript": "NM_001369536.1",
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},
{
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],
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"feature": "ENST00000692473.1",
"gene_hgnc_id": 8032,
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"protein_coding": true,
"protein_id": "ENSP00000509020.1",
"strand": true,
"transcript": "ENST00000692473.1",
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},
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"consequences": [
"intron_variant"
],
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"exon_rank": null,
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"feature": "NM_001369535.1",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.1657-4087C>T",
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"protein_coding": true,
"protein_id": "NP_001356464.1",
"strand": true,
"transcript": "NM_001369535.1",
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},
{
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"cds_length": 2001,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000689301.1",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.1657-4087C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510766.1",
"strand": true,
"transcript": "ENST00000689301.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8892,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005252001.4",
"gene_hgnc_id": 8032,
"gene_symbol": "NTRK2",
"hgvs_c": "c.2173-4087C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005252058.1",
"strand": true,
"transcript": "XM_005252001.4",
"transcript_support_level": null
},
{
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