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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: 2-178667235-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178667235&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178667235,
"ref": "C",
"alt": "A",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_001267550.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": 162,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.35797+1G>T",
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": 162,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.35797+1G>T",
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": 162,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.35797+1G>T",
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": 160,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.35521+1G>T",
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": 162,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.35797+1G>T",
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": 164,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.35797+1G>T",
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": 162,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.35797+1G>T",
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": 159,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.35383+1G>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": 153,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34264+2983G>T",
"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,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": 153,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34264+2983G>T",
"hgvs_p": null,
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 152,
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"gene_symbol": "TTN",
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"hgvs_c": "c.31483+2983G>T",
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"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
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],
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},
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],
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"intron_rank": 47,
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"gene_symbol": "TTN",
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"hgvs_c": "c.13859-24918G>T",
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],
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],
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"transcript": "NM_133432.3",
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},
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"hgvs_c": "c.13283-24918G>T",
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"protein_id": "NP_003310.4",
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],
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"intron_rank": 46,
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"gene_symbol": "TTN",
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"hgvs_c": "c.13283-24918G>T",
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"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
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],
"exon_rank": null,
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"gene_symbol": "TTN-AS1",
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],
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],
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
"gene_hgnc_id": 44124,
"hgvs_c": "n.211+30537C>A",
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"transcript": "ENST00000589830.1",
"protein_id": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
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"hgvs_c": "n.684-67269C>A",
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"cdna_start": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": 47,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.13424-24918G>T",
"hgvs_p": null,
"transcript": "XM_024453099.1",
"protein_id": "XP_024308867.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 26956,
"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "LOC124906100",
"gene_hgnc_id": null,
"hgvs_c": "n.2185+22734C>A",
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"transcript": "XR_007087318.1",
"protein_id": null,
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"feature": null
}
],
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"dbsnp": "rs917175304",
"frequency_reference_population": 0.0000031367078,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000208037,
"gnomad_genomes_af": 0.0000131596,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3700000047683716,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.949999988079071,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.224,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.79,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999990361384395,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001267550.2",
"gene_symbol": "TTN",
"hgnc_id": 12403,
"effects": [
"splice_donor_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.35797+1G>T",
"hgvs_p": null
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000431752.1",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.124+30537C>A",
"hgvs_p": null
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "XR_007087318.1",
"gene_symbol": "LOC124906100",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2185+22734C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2J,Dilated cardiomyopathy 1G,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}