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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: 2-178542894-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178542894&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178542894,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 348,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.96960T>C",
"hgvs_p": "p.Ala32320Ala",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 32320,
"aa_end": null,
"aa_length": 35991,
"cds_start": 96960,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 97185,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 348,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.96960T>C",
"hgvs_p": "p.Ala32320Ala",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 32320,
"aa_end": null,
"aa_length": 35991,
"cds_start": 96960,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 97185,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 346,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.96804T>C",
"hgvs_p": "p.Ala32268Ala",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 32268,
"aa_end": null,
"aa_length": 35939,
"cds_start": 96804,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 97029,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 346,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.96684T>C",
"hgvs_p": "p.Ala32228Ala",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 32228,
"aa_end": null,
"aa_length": 35899,
"cds_start": 96684,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 96909,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 341,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.96402T>C",
"hgvs_p": "p.Ala32134Ala",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 32134,
"aa_end": null,
"aa_length": 35805,
"cds_start": 96402,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 96627,
"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": 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+533A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 350,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.96960T>C",
"hgvs_p": "p.Ala32320Ala",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 32320,
"aa_end": null,
"aa_length": 35991,
"cds_start": 96960,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 97449,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 347,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.96876T>C",
"hgvs_p": "p.Ala32292Ala",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 32292,
"aa_end": null,
"aa_length": 35963,
"cds_start": 96876,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 97101,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 345,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.96546T>C",
"hgvs_p": "p.Ala32182Ala",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 32182,
"aa_end": null,
"aa_length": 35853,
"cds_start": 96546,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 96771,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 298,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.92037T>C",
"hgvs_p": "p.Ala30679Ala",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 30679,
"aa_end": null,
"aa_length": 34350,
"cds_start": 92037,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 92262,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 298,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.92037T>C",
"hgvs_p": "p.Ala30679Ala",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 30679,
"aa_end": null,
"aa_length": 34350,
"cds_start": 92037,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 92262,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 297,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.89256T>C",
"hgvs_p": "p.Ala29752Ala",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 29752,
"aa_end": null,
"aa_length": 33423,
"cds_start": 89256,
"cds_end": null,
"cds_length": 100272,
"cdna_start": 89481,
"cdna_end": null,
"cdna_length": 101520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 297,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.89256T>C",
"hgvs_p": "p.Ala29752Ala",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
"transcript_support_level": 5,
"aa_start": 29752,
"aa_end": null,
"aa_length": 33423,
"cds_start": 89256,
"cds_end": null,
"cds_length": 100272,
"cdna_start": 89481,
"cdna_end": null,
"cdna_length": 101520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 177,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.70341T>C",
"hgvs_p": "p.Ala23447Ala",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
"transcript_support_level": null,
"aa_start": 23447,
"aa_end": null,
"aa_length": 27118,
"cds_start": 70341,
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"cdna_start": 70566,
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"cdna_length": 82605,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 176,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.70341T>C",
"hgvs_p": "p.Ala23447Ala",
"transcript": "ENST00000342175.12",
"protein_id": "ENSP00000340554.6",
"transcript_support_level": 5,
"aa_start": 23447,
"aa_end": null,
"aa_length": 27118,
"cds_start": 70341,
"cds_end": null,
"cds_length": 81357,
"cdna_start": 70341,
"cdna_end": null,
"cdna_length": 82380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 177,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.70140T>C",
"hgvs_p": "p.Ala23380Ala",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
"transcript_support_level": null,
"aa_start": 23380,
"aa_end": null,
"aa_length": 27051,
"cds_start": 70140,
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"cdna_start": 70365,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 176,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.70140T>C",
"hgvs_p": "p.Ala23380Ala",
"transcript": "ENST00000359218.11",
"protein_id": "ENSP00000352154.5",
"transcript_support_level": 5,
"aa_start": 23380,
"aa_end": null,
"aa_length": 27051,
"cds_start": 70140,
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"cds_length": 81156,
"cdna_start": 70140,
"cdna_end": null,
"cdna_length": 82179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 176,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.69765T>C",
"hgvs_p": "p.Ala23255Ala",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
"transcript_support_level": null,
"aa_start": 23255,
"aa_end": null,
"aa_length": 26926,
"cds_start": 69765,
"cds_end": null,
"cds_length": 80781,
"cdna_start": 69990,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 176,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.69765T>C",
"hgvs_p": "p.Ala23255Ala",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
"transcript_support_level": 5,
"aa_start": 23255,
"aa_end": null,
"aa_length": 26926,
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"cdna_start": 69990,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 344,
"exon_rank_end": null,
"exon_count": 359,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.95853T>C",
"hgvs_p": "p.Ala31951Ala",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
"transcript_support_level": null,
"aa_start": 31951,
"aa_end": null,
"aa_length": 35622,
"cds_start": 95853,
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"cds_length": 106869,
"cdna_start": 96078,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 302,
"exon_rank_end": null,
"exon_count": 317,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.91965T>C",
"hgvs_p": "p.Ala30655Ala",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
"transcript_support_level": null,
"aa_start": 30655,
"aa_end": null,
"aa_length": 34326,
"cds_start": 91965,
"cds_end": null,
"cds_length": 102981,
"cdna_start": 92190,
"cdna_end": null,
"cdna_length": 104229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 298,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.91629T>C",
"hgvs_p": "p.Ala30543Ala",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
"transcript_support_level": null,
"aa_start": 30543,
"aa_end": null,
"aa_length": 34214,
"cds_start": 91629,
"cds_end": null,
"cds_length": 102645,
"cdna_start": 91854,
"cdna_end": null,
"cdna_length": 103893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 295,
"exon_rank_end": null,
"exon_count": 310,
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{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000589042.5",
"gene_symbol": "TTN",
"hgnc_id": 12403,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.96960T>C",
"hgvs_p": "p.Ala32320Ala"
},
{
"score": -10,
"benign_score": 12,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000590040.5",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.564A>G",
"hgvs_p": null
}
],
"clinvar_disease": " 9, myofibrillar, with early respiratory failure,Autosomal recessive limb-girdle muscular dystrophy type 2J,Cardiovascular phenotype,Dilated cardiomyopathy 1G,Early-onset myopathy with fatal cardiomyopathy,Myopathy,Tibial muscular dystrophy,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:5",
"phenotype_combined": "not specified|not provided|Early-onset myopathy with fatal cardiomyopathy|Cardiovascular phenotype|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}