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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: 12-101617248-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=101617248&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 101617248,
"ref": "G",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000361466.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.103+5G>C",
"hgvs_p": null,
"transcript": "NM_002465.4",
"protein_id": "NP_002456.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1171,
"cds_start": -4,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": "ENST00000361466.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.103+5G>C",
"hgvs_p": null,
"transcript": "ENST00000361466.7",
"protein_id": "ENSP00000354849.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1171,
"cds_start": -4,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": "NM_002465.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.103+5G>C",
"hgvs_p": null,
"transcript": "ENST00000361685.6",
"protein_id": "ENSP00000354845.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": -4,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.103+5G>C",
"hgvs_p": null,
"transcript": "ENST00000545503.6",
"protein_id": "ENSP00000440034.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1146,
"cds_start": -4,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.67+5G>C",
"hgvs_p": null,
"transcript": "ENST00000541119.5",
"protein_id": "ENSP00000442847.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1134,
"cds_start": -4,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.103+5G>C",
"hgvs_p": null,
"transcript": "ENST00000536007.5",
"protein_id": "ENSP00000446128.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1127,
"cds_start": -4,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.103+5G>C",
"hgvs_p": null,
"transcript": "ENST00000553190.5",
"protein_id": "ENSP00000447900.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1123,
"cds_start": -4,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.26-12186G>C",
"hgvs_p": null,
"transcript": "ENST00000547405.5",
"protein_id": "ENSP00000448175.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1120,
"cds_start": -4,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.-270+5G>C",
"hgvs_p": null,
"transcript": "ENST00000551300.5",
"protein_id": "ENSP00000447116.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": -4,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.103+5G>C",
"hgvs_p": null,
"transcript": "NM_001404675.1",
"protein_id": "NP_001391604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1177,
"cds_start": -4,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.103+5G>C",
"hgvs_p": null,
"transcript": "NM_001254718.3",
"protein_id": "NP_001241647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 3,
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"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.103+5G>C",
"hgvs_p": null,
"transcript": "ENST00000452455.6",
"protein_id": "ENSP00000400908.2",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 1173,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 3,
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"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.103+5G>C",
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"transcript": "ENST00000549145.5",
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"cdna_start": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 3,
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"gene_symbol": "MYBPC1",
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"hgvs_c": "c.103+5G>C",
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"transcript": "NM_206819.4",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.103+5G>C",
"hgvs_p": null,
"transcript": "NM_001254719.3",
"protein_id": "NP_001241648.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 3,
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"gene_symbol": "MYBPC1",
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"hgvs_c": "c.103+5G>C",
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"transcript": "NM_206820.4",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.103+5G>C",
"hgvs_p": null,
"transcript": "ENST00000550270.1",
"protein_id": "ENSP00000449702.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.26-9624G>C",
"hgvs_p": null,
"transcript": "NM_001254723.3",
"protein_id": "NP_001241652.1",
"transcript_support_level": null,
"aa_start": null,
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.26-9624G>C",
"hgvs_p": null,
"transcript": "ENST00000392934.7",
"protein_id": "ENSP00000376665.3",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.67+5G>C",
"hgvs_p": null,
"transcript": "NM_001254720.3",
"protein_id": "NP_001241649.1",
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},
{
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"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.103+5G>C",
"hgvs_p": null,
"transcript": "NM_001404676.1",
"protein_id": "NP_001391605.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1133,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.61+2717G>C",
"hgvs_p": null,
"transcript": "ENST00000547509.5",
"protein_id": "ENSP00000447362.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1132,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
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{
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],
"gene_symbol": "MYBPC1",
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Pathogenic",
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"bayesdelnoaf_score": -0.32,
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"phylop100way_score": 4.81,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Pathogenic",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PP3"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD,AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}