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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: 2-178553124-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178553124&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TTN",
"hgnc_id": 12403,
"hgvs_c": "c.89776G>A",
"hgvs_p": "p.Val29926Met",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001267550.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"hgvs_c": "n.2043+10763C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000419746.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3946,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2J,Dilated cardiomyopathy 1G",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.28009945154190063,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "V",
"aa_start": 29926,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 90001,
"cds_end": null,
"cds_length": 107976,
"cds_start": 89776,
"consequences": [
"missense_variant"
],
"exon_count": 363,
"exon_rank": 335,
"exon_rank_end": null,
"feature": "NM_001267550.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.89776G>A",
"hgvs_p": "p.Val29926Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000589042.5",
"protein_coding": true,
"protein_id": "NP_001254479.2",
"strand": false,
"transcript": "NM_001267550.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "V",
"aa_start": 29926,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 109224,
"cdna_start": 90001,
"cds_end": null,
"cds_length": 107976,
"cds_start": 89776,
"consequences": [
"missense_variant"
],
"exon_count": 363,
"exon_rank": 335,
"exon_rank_end": null,
"feature": "ENST00000589042.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.89776G>A",
"hgvs_p": "p.Val29926Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001267550.2",
"protein_coding": true,
"protein_id": "ENSP00000467141.1",
"strand": false,
"transcript": "ENST00000589042.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 35939,
"aa_ref": "V",
"aa_start": 29874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109068,
"cdna_start": 89845,
"cds_end": null,
"cds_length": 107820,
"cds_start": 89620,
"consequences": [
"missense_variant"
],
"exon_count": 361,
"exon_rank": 333,
"exon_rank_end": null,
"feature": "ENST00000446966.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.89620G>A",
"hgvs_p": "p.Val29874Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408004.2",
"strand": false,
"transcript": "ENST00000446966.2",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 35899,
"aa_ref": "V",
"aa_start": 29834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108948,
"cdna_start": 89725,
"cds_end": null,
"cds_length": 107700,
"cds_start": 89500,
"consequences": [
"missense_variant"
],
"exon_count": 361,
"exon_rank": 333,
"exon_rank_end": null,
"feature": "ENST00000436599.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.89500G>A",
"hgvs_p": "p.Val29834Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405517.2",
"strand": false,
"transcript": "ENST00000436599.2",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 35805,
"aa_ref": "V",
"aa_start": 29740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108666,
"cdna_start": 89443,
"cds_end": null,
"cds_length": 107418,
"cds_start": 89218,
"consequences": [
"missense_variant"
],
"exon_count": 356,
"exon_rank": 328,
"exon_rank_end": null,
"feature": "ENST00000426232.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.89218G>A",
"hgvs_p": "p.Val29740Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392336.2",
"strand": false,
"transcript": "ENST00000426232.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4592,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000419746.5",
"gene_hgnc_id": 44124,
"gene_symbol": "TTN-AS1",
"hgvs_c": "n.2043+10763C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000419746.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 35991,
"aa_ref": "V",
"aa_start": 29926,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109488,
"cdna_start": 90265,
"cds_end": null,
"cds_length": 107976,
"cds_start": 89776,
"consequences": [
"missense_variant"
],
"exon_count": 365,
"exon_rank": 337,
"exon_rank_end": null,
"feature": "ENST00000412264.2",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.89776G>A",
"hgvs_p": "p.Val29926Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394672.2",
"strand": false,
"transcript": "ENST00000412264.2",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 35963,
"aa_ref": "V",
"aa_start": 29898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 109140,
"cdna_start": 89917,
"cds_end": null,
"cds_length": 107892,
"cds_start": 89692,
"consequences": [
"missense_variant"
],
"exon_count": 362,
"exon_rank": 334,
"exon_rank_end": null,
"feature": "ENST00000425332.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.89692G>A",
"hgvs_p": "p.Val29898Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396805.3",
"strand": false,
"transcript": "ENST00000425332.3",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 35853,
"aa_ref": "V",
"aa_start": 29788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108810,
"cdna_start": 89587,
"cds_end": null,
"cds_length": 107562,
"cds_start": 89362,
"consequences": [
"missense_variant"
],
"exon_count": 360,
"exon_rank": 332,
"exon_rank_end": null,
"feature": "ENST00000715174.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.89362G>A",
"hgvs_p": "p.Val29788Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520370.1",
"strand": false,
"transcript": "ENST00000715174.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 34350,
"aa_ref": "V",
"aa_start": 28285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 104301,
"cdna_start": 85078,
"cds_end": null,
"cds_length": 103053,
"cds_start": 84853,
"consequences": [
"missense_variant"
],
"exon_count": 313,
"exon_rank": 285,
"exon_rank_end": null,
"feature": "NM_001256850.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.84853G>A",
"hgvs_p": "p.Val28285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243779.1",
"strand": false,
"transcript": "NM_001256850.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 34350,
"aa_ref": "V",
"aa_start": 28285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 104301,
"cdna_start": 85078,
"cds_end": null,
"cds_length": 103053,
"cds_start": 84853,
"consequences": [
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],
"exon_count": 313,
"exon_rank": 285,
"exon_rank_end": null,
"feature": "ENST00000591111.5",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.84853G>A",
"hgvs_p": "p.Val28285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465570.1",
"strand": false,
"transcript": "ENST00000591111.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
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"aa_length": 33423,
"aa_ref": "V",
"aa_start": 27358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 101520,
"cdna_start": 82297,
"cds_end": null,
"cds_length": 100272,
"cds_start": 82072,
"consequences": [
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],
"exon_count": 312,
"exon_rank": 284,
"exon_rank_end": null,
"feature": "NM_133378.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.82072G>A",
"hgvs_p": "p.Val27358Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_596869.4",
"strand": false,
"transcript": "NM_133378.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 33423,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 101520,
"cdna_start": 82297,
"cds_end": null,
"cds_length": 100272,
"cds_start": 82072,
"consequences": [
"missense_variant"
],
"exon_count": 312,
"exon_rank": 284,
"exon_rank_end": null,
"feature": "ENST00000342992.11",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.82072G>A",
"hgvs_p": "p.Val27358Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343764.6",
"strand": false,
"transcript": "ENST00000342992.11",
"transcript_support_level": 5
},
{
"aa_alt": "M",
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"aa_length": 27118,
"aa_ref": "V",
"aa_start": 21053,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 63382,
"cds_end": null,
"cds_length": 81357,
"cds_start": 63157,
"consequences": [
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],
"exon_count": 192,
"exon_rank": 164,
"exon_rank_end": null,
"feature": "NM_133437.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.63157G>A",
"hgvs_p": "p.Val21053Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_597681.4",
"strand": false,
"transcript": "NM_133437.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 27118,
"aa_ref": "V",
"aa_start": 21053,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82380,
"cdna_start": 63157,
"cds_end": null,
"cds_length": 81357,
"cds_start": 63157,
"consequences": [
"missense_variant"
],
"exon_count": 191,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "ENST00000342175.12",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.63157G>A",
"hgvs_p": "p.Val21053Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340554.6",
"strand": false,
"transcript": "ENST00000342175.12",
"transcript_support_level": 5
},
{
"aa_alt": "M",
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"aa_length": 27051,
"aa_ref": "V",
"aa_start": 20986,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82404,
"cdna_start": 63181,
"cds_end": null,
"cds_length": 81156,
"cds_start": 62956,
"consequences": [
"missense_variant"
],
"exon_count": 192,
"exon_rank": 164,
"exon_rank_end": null,
"feature": "NM_133432.3",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.62956G>A",
"hgvs_p": "p.Val20986Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_597676.3",
"strand": false,
"transcript": "NM_133432.3",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 62956,
"cds_end": null,
"cds_length": 81156,
"cds_start": 62956,
"consequences": [
"missense_variant"
],
"exon_count": 191,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "ENST00000359218.11",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.62956G>A",
"hgvs_p": "p.Val20986Met",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000352154.5",
"strand": false,
"transcript": "ENST00000359218.11",
"transcript_support_level": 5
},
{
"aa_alt": "M",
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"aa_length": 26926,
"aa_ref": "V",
"aa_start": 20861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82029,
"cdna_start": 62806,
"cds_end": null,
"cds_length": 80781,
"cds_start": 62581,
"consequences": [
"missense_variant"
],
"exon_count": 191,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "NM_003319.4",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.62581G>A",
"hgvs_p": "p.Val20861Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003310.4",
"strand": false,
"transcript": "NM_003319.4",
"transcript_support_level": null
},
{
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"aa_ref": "V",
"aa_start": 20861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 82029,
"cdna_start": 62806,
"cds_end": null,
"cds_length": 80781,
"cds_start": 62581,
"consequences": [
"missense_variant"
],
"exon_count": 191,
"exon_rank": 163,
"exon_rank_end": null,
"feature": "ENST00000460472.6",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.62581G>A",
"hgvs_p": "p.Val20861Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434586.1",
"strand": false,
"transcript": "ENST00000460472.6",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 35622,
"aa_ref": "V",
"aa_start": 29557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 108117,
"cdna_start": 88894,
"cds_end": null,
"cds_length": 106869,
"cds_start": 88669,
"consequences": [
"missense_variant"
],
"exon_count": 359,
"exon_rank": 331,
"exon_rank_end": null,
"feature": "XM_017004819.1",
"gene_hgnc_id": 12403,
"gene_symbol": "TTN",
"hgvs_c": "c.88669G>A",
"hgvs_p": "p.Val29557Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860308.1",
"strand": false,
"transcript": "XM_017004819.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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],
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]
}