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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: X-153955129-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153955129&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "HCFC1",
"hgnc_id": 4839,
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001440843.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2035,
"aa_ref": "T",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8876,
"cdna_start": 4248,
"cds_end": null,
"cds_length": 6108,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_005334.3",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310441.12",
"protein_coding": true,
"protein_id": "NP_005325.2",
"strand": false,
"transcript": "NM_005334.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2035,
"aa_ref": "T",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8876,
"cdna_start": 4248,
"cds_end": null,
"cds_length": 6108,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000310441.12",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005334.3",
"protein_coding": true,
"protein_id": "ENSP00000309555.7",
"strand": false,
"transcript": "ENST00000310441.12",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2082,
"aa_ref": "T",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9017,
"cdna_start": 4248,
"cds_end": null,
"cds_length": 6249,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001440843.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427772.1",
"strand": false,
"transcript": "NM_001440843.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2082,
"aa_ref": "T",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9030,
"cdna_start": 4261,
"cds_end": null,
"cds_length": 6249,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000925202.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595261.1",
"strand": false,
"transcript": "ENST00000925202.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "T",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9011,
"cdna_start": 4248,
"cds_end": null,
"cds_length": 6243,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001410705.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397634.1",
"strand": false,
"transcript": "NM_001410705.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "T",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8375,
"cdna_start": 3614,
"cds_end": null,
"cds_length": 6243,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000369984.4",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359001.4",
"strand": false,
"transcript": "ENST00000369984.4",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2079,
"aa_ref": "T",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9008,
"cdna_start": 4248,
"cds_end": null,
"cds_length": 6240,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001440844.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427773.1",
"strand": false,
"transcript": "NM_001440844.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2079,
"aa_ref": "T",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9008,
"cdna_start": 4248,
"cds_end": null,
"cds_length": 6240,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001440845.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427774.1",
"strand": false,
"transcript": "NM_001440845.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2079,
"aa_ref": "T",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9620,
"cdna_start": 4857,
"cds_end": null,
"cds_length": 6240,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000925198.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595257.1",
"strand": false,
"transcript": "ENST00000925198.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2078,
"aa_ref": "T",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9005,
"cdna_start": 4248,
"cds_end": null,
"cds_length": 6237,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001440846.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427775.1",
"strand": false,
"transcript": "NM_001440846.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2078,
"aa_ref": "T",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9299,
"cdna_start": 4542,
"cds_end": null,
"cds_length": 6237,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000925201.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595260.1",
"strand": false,
"transcript": "ENST00000925201.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2072,
"aa_ref": "T",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8986,
"cdna_start": 4227,
"cds_end": null,
"cds_length": 6219,
"cds_start": 3249,
"consequences": [
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],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000925204.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3249C>A",
"hgvs_p": "p.Thr1083Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595263.1",
"strand": false,
"transcript": "ENST00000925204.1",
"transcript_support_level": null
},
{
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"aa_length": 2039,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8888,
"cdna_start": 4248,
"cds_end": null,
"cds_length": 6120,
"cds_start": 3270,
"consequences": [
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],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001440847.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427776.1",
"strand": false,
"transcript": "NM_001440847.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2039,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8894,
"cdna_start": 4256,
"cds_end": null,
"cds_length": 6120,
"cds_start": 3270,
"consequences": [
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],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000925203.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000595262.1",
"strand": false,
"transcript": "ENST00000925203.1",
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},
{
"aa_alt": "T",
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"aa_ref": "T",
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"cdna_start": 4248,
"cds_end": null,
"cds_length": 6117,
"cds_start": 3270,
"consequences": [
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],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001440848.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427777.1",
"strand": false,
"transcript": "NM_001440848.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 2038,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10307,
"cdna_start": 4547,
"cds_end": null,
"cds_length": 6117,
"cds_start": 3270,
"consequences": [
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],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000925197.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595256.1",
"strand": false,
"transcript": "ENST00000925197.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2036,
"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 4248,
"cds_end": null,
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"consequences": [
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],
"exon_count": 26,
"exon_rank": 17,
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"feature": "NM_001440849.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001427778.1",
"strand": false,
"transcript": "NM_001440849.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"cdna_start": 4549,
"cds_end": null,
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"cds_start": 3270,
"consequences": [
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],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000925200.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3270C>A",
"hgvs_p": "p.Thr1090Thr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000595259.1",
"strand": false,
"transcript": "ENST00000925200.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 3588,
"cds_end": null,
"cds_length": 6087,
"cds_start": 3249,
"consequences": [
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],
"exon_count": 26,
"exon_rank": 17,
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"feature": "ENST00000925205.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3249C>A",
"hgvs_p": "p.Thr1083Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595264.1",
"strand": false,
"transcript": "ENST00000925205.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2013,
"aa_ref": "T",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8810,
"cdna_start": 4050,
"cds_end": null,
"cds_length": 6042,
"cds_start": 3072,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001440850.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3072C>A",
"hgvs_p": "p.Thr1024Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427779.1",
"strand": false,
"transcript": "NM_001440850.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1969,
"aa_ref": "T",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8678,
"cdna_start": 4050,
"cds_end": null,
"cds_length": 5910,
"cds_start": 3072,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
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