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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: 2-178637426-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178637426&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178637426,
"ref": "T",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001267550.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": 223,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.40877-7A>C",
"hgvs_p": null,
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 35991,
"cds_start": -4,
"cds_end": null,
"cds_length": 107976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": 223,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.40877-7A>C",
"hgvs_p": null,
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 35991,
"cds_start": -4,
"cds_end": null,
"cds_length": 107976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": 221,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.40721-7A>C",
"hgvs_p": null,
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 35939,
"cds_start": -4,
"cds_end": null,
"cds_length": 107820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": 221,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.40601-7A>C",
"hgvs_p": null,
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 35899,
"cds_start": -4,
"cds_end": null,
"cds_length": 107700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": 216,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.40319-7A>C",
"hgvs_p": null,
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 35805,
"cds_start": -4,
"cds_end": null,
"cds_length": 107418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": 225,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.40877-7A>C",
"hgvs_p": null,
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 35991,
"cds_start": -4,
"cds_end": null,
"cds_length": 107976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": 222,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.40793-7A>C",
"hgvs_p": null,
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 35963,
"cds_start": -4,
"cds_end": null,
"cds_length": 107892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": 220,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.40463-7A>C",
"hgvs_p": null,
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 35853,
"cds_start": -4,
"cds_end": null,
"cds_length": 107562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": 173,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.35954-7A>C",
"hgvs_p": null,
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 34350,
"cds_start": -4,
"cds_end": null,
"cds_length": 103053,
"cdna_start": null,
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"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": 173,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.35954-7A>C",
"hgvs_p": null,
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 34350,
"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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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": 172,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.33173-7A>C",
"hgvs_p": null,
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"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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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 312,
"intron_rank": 172,
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"gene_symbol": "TTN",
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"hgvs_c": "c.33173-7A>C",
"hgvs_p": null,
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
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},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 192,
"intron_rank": 52,
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"gene_symbol": "TTN",
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"hgvs_c": "c.14258-7A>C",
"hgvs_p": null,
"transcript": "NM_133437.4",
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},
{
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],
"exon_rank": null,
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"intron_rank": 51,
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"gene_symbol": "TTN",
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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 192,
"intron_rank": 52,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.14057-7A>C",
"hgvs_p": null,
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
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},
{
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],
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"intron_rank": 51,
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"gene_symbol": "TTN",
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"transcript": "ENST00000359218.11",
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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 191,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.13682-7A>C",
"hgvs_p": null,
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.13682-7A>C",
"hgvs_p": null,
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
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},
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "TTN-AS1",
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"hgvs_c": "n.139+728T>G",
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},
{
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"strand": true,
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],
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"gene_symbol": "TTN-AS1",
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"hgvs_c": "n.124+728T>G",
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"transcript": "ENST00000431752.1",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "TTN-AS1",
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"hgvs_c": "n.198+113790T>G",
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"transcript": "ENST00000585451.5",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
"gene_hgnc_id": 44124,
"hgvs_c": "n.111-6868T>G",
"hgvs_p": null,
"transcript": "ENST00000589487.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"biotype": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
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}
],
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"computational_score_selected": -0.699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.004000000189989805,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.17,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001267550.2",
"gene_symbol": "TTN",
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"effects": [
"splice_region_variant",
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"inheritance_mode": "AD,AR",
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},
{
"score": -4,
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"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000431752.1",
"gene_symbol": "TTN-AS1",
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2J,Dilated cardiomyopathy 1G",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}