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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: 2-178559372-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178559372&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178559372,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001267550.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 326,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.86760T>C",
"hgvs_p": "p.Ser28920Ser",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 28920,
"aa_end": null,
"aa_length": 35991,
"cds_start": 86760,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 86985,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267550.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 326,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.86760T>C",
"hgvs_p": "p.Ser28920Ser",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 28920,
"aa_end": null,
"aa_length": 35991,
"cds_start": 86760,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 86985,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589042.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 324,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.86604T>C",
"hgvs_p": "p.Ser28868Ser",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 28868,
"aa_end": null,
"aa_length": 35939,
"cds_start": 86604,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 86829,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446966.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 324,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.86484T>C",
"hgvs_p": "p.Ser28828Ser",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 28828,
"aa_end": null,
"aa_length": 35899,
"cds_start": 86484,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 86709,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436599.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 319,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.86202T>C",
"hgvs_p": "p.Ser28734Ser",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 28734,
"aa_end": null,
"aa_length": 35805,
"cds_start": 86202,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 86427,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426232.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
"gene_hgnc_id": 44124,
"hgvs_c": "n.2043+17011A>G",
"hgvs_p": null,
"transcript": "ENST00000419746.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000419746.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 328,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.86760T>C",
"hgvs_p": "p.Ser28920Ser",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 28920,
"aa_end": null,
"aa_length": 35991,
"cds_start": 86760,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 87249,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412264.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 325,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.86676T>C",
"hgvs_p": "p.Ser28892Ser",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 28892,
"aa_end": null,
"aa_length": 35963,
"cds_start": 86676,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 86901,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425332.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 323,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.86346T>C",
"hgvs_p": "p.Ser28782Ser",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 28782,
"aa_end": null,
"aa_length": 35853,
"cds_start": 86346,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 86571,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715174.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 276,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.81837T>C",
"hgvs_p": "p.Ser27279Ser",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 27279,
"aa_end": null,
"aa_length": 34350,
"cds_start": 81837,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 82062,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256850.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 276,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.81837T>C",
"hgvs_p": "p.Ser27279Ser",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 27279,
"aa_end": null,
"aa_length": 34350,
"cds_start": 81837,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 82062,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591111.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 275,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.79056T>C",
"hgvs_p": "p.Ser26352Ser",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 26352,
"aa_end": null,
"aa_length": 33423,
"cds_start": 79056,
"cds_end": null,
"cds_length": 100272,
"cdna_start": 79281,
"cdna_end": null,
"cdna_length": 101520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133378.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 275,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.79056T>C",
"hgvs_p": "p.Ser26352Ser",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
"transcript_support_level": 5,
"aa_start": 26352,
"aa_end": null,
"aa_length": 33423,
"cds_start": 79056,
"cds_end": null,
"cds_length": 100272,
"cdna_start": 79281,
"cdna_end": null,
"cdna_length": 101520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342992.11"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 155,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.60141T>C",
"hgvs_p": "p.Ser20047Ser",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
"transcript_support_level": null,
"aa_start": 20047,
"aa_end": null,
"aa_length": 27118,
"cds_start": 60141,
"cds_end": null,
"cds_length": 81357,
"cdna_start": 60366,
"cdna_end": null,
"cdna_length": 82605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133437.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 154,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.60141T>C",
"hgvs_p": "p.Ser20047Ser",
"transcript": "ENST00000342175.12",
"protein_id": "ENSP00000340554.6",
"transcript_support_level": 5,
"aa_start": 20047,
"aa_end": null,
"aa_length": 27118,
"cds_start": 60141,
"cds_end": null,
"cds_length": 81357,
"cdna_start": 60141,
"cdna_end": null,
"cdna_length": 82380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342175.12"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 155,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.59940T>C",
"hgvs_p": "p.Ser19980Ser",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
"transcript_support_level": null,
"aa_start": 19980,
"aa_end": null,
"aa_length": 27051,
"cds_start": 59940,
"cds_end": null,
"cds_length": 81156,
"cdna_start": 60165,
"cdna_end": null,
"cdna_length": 82404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133432.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 154,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.59940T>C",
"hgvs_p": "p.Ser19980Ser",
"transcript": "ENST00000359218.11",
"protein_id": "ENSP00000352154.5",
"transcript_support_level": 5,
"aa_start": 19980,
"aa_end": null,
"aa_length": 27051,
"cds_start": 59940,
"cds_end": null,
"cds_length": 81156,
"cdna_start": 59940,
"cdna_end": null,
"cdna_length": 82179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359218.11"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 154,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.59565T>C",
"hgvs_p": "p.Ser19855Ser",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
"transcript_support_level": null,
"aa_start": 19855,
"aa_end": null,
"aa_length": 26926,
"cds_start": 59565,
"cds_end": null,
"cds_length": 80781,
"cdna_start": 59790,
"cdna_end": null,
"cdna_length": 82029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003319.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 154,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.59565T>C",
"hgvs_p": "p.Ser19855Ser",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
"transcript_support_level": 5,
"aa_start": 19855,
"aa_end": null,
"aa_length": 26926,
"cds_start": 59565,
"cds_end": null,
"cds_length": 80781,
"cdna_start": 59790,
"cdna_end": null,
"cdna_length": 82029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460472.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 322,
"exon_rank_end": null,
"exon_count": 359,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.85653T>C",
"hgvs_p": "p.Ser28551Ser",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
"transcript_support_level": null,
"aa_start": 28551,
"aa_end": null,
"aa_length": 35622,
"cds_start": 85653,
"cds_end": null,
"cds_length": 106869,
"cdna_start": 85878,
"cdna_end": null,
"cdna_length": 108117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004819.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 280,
"exon_rank_end": null,
"exon_count": 317,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.81765T>C",
"hgvs_p": "p.Ser27255Ser",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
"transcript_support_level": null,
"aa_start": 27255,
"aa_end": null,
"aa_length": 34326,
"cds_start": 81765,
"cds_end": null,
"cds_length": 102981,
"cdna_start": 81990,
"cdna_end": null,
"cdna_length": 104229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445660.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 276,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.81429T>C",
"hgvs_p": "p.Ser27143Ser",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
"transcript_support_level": null,
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"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.267,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001267550.2",
"gene_symbol": "TTN",
"hgnc_id": 12403,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.86760T>C",
"hgvs_p": "p.Ser28920Ser"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000419746.5",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2043+17011A>G",
"hgvs_p": null
}
],
"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": "Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}