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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: 2-178531403-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178531403&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178531403,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 358,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.105212C>G",
"hgvs_p": "p.Ser35071Cys",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 35071,
"aa_end": null,
"aa_length": 35991,
"cds_start": 105212,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 105437,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 358,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.105212C>G",
"hgvs_p": "p.Ser35071Cys",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 35071,
"aa_end": null,
"aa_length": 35991,
"cds_start": 105212,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 105437,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 356,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.105056C>G",
"hgvs_p": "p.Ser35019Cys",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 35019,
"aa_end": null,
"aa_length": 35939,
"cds_start": 105056,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 105281,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 356,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.104936C>G",
"hgvs_p": "p.Ser34979Cys",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 34979,
"aa_end": null,
"aa_length": 35899,
"cds_start": 104936,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 105161,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 351,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.104654C>G",
"hgvs_p": "p.Ser34885Cys",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 34885,
"aa_end": null,
"aa_length": 35805,
"cds_start": 104654,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 104879,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
"gene_hgnc_id": 44124,
"hgvs_c": "n.220-4329G>C",
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 360,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.105212C>G",
"hgvs_p": "p.Ser35071Cys",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 35071,
"aa_end": null,
"aa_length": 35991,
"cds_start": 105212,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 105701,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 357,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.105128C>G",
"hgvs_p": "p.Ser35043Cys",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 35043,
"aa_end": null,
"aa_length": 35963,
"cds_start": 105128,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 105353,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 355,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.104798C>G",
"hgvs_p": "p.Ser34933Cys",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 34933,
"aa_end": null,
"aa_length": 35853,
"cds_start": 104798,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 105023,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 308,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.100289C>G",
"hgvs_p": "p.Ser33430Cys",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 33430,
"aa_end": null,
"aa_length": 34350,
"cds_start": 100289,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 100514,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 308,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.100289C>G",
"hgvs_p": "p.Ser33430Cys",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 33430,
"aa_end": null,
"aa_length": 34350,
"cds_start": 100289,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 100514,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 307,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.97508C>G",
"hgvs_p": "p.Ser32503Cys",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 32503,
"aa_end": null,
"aa_length": 33423,
"cds_start": 97508,
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"cds_length": 100272,
"cdna_start": 97733,
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"cdna_length": 101520,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 307,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.97508C>G",
"hgvs_p": "p.Ser32503Cys",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
"transcript_support_level": 5,
"aa_start": 32503,
"aa_end": null,
"aa_length": 33423,
"cds_start": 97508,
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"cds_length": 100272,
"cdna_start": 97733,
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"cdna_length": 101520,
"mane_select": null,
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 187,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.78593C>G",
"hgvs_p": "p.Ser26198Cys",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
"transcript_support_level": 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": [
"missense_variant"
],
"exon_rank": 186,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.78593C>G",
"hgvs_p": "p.Ser26198Cys",
"transcript": "ENST00000342175.12",
"protein_id": "ENSP00000340554.6",
"transcript_support_level": 5,
"aa_start": 26198,
"aa_end": null,
"aa_length": 27118,
"cds_start": 78593,
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"cdna_start": 78593,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 187,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.78392C>G",
"hgvs_p": "p.Ser26131Cys",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 186,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.78392C>G",
"hgvs_p": "p.Ser26131Cys",
"transcript": "ENST00000359218.11",
"protein_id": "ENSP00000352154.5",
"transcript_support_level": 5,
"aa_start": 26131,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 186,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.78017C>G",
"hgvs_p": "p.Ser26006Cys",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
"transcript_support_level": null,
"aa_start": 26006,
"aa_end": null,
"aa_length": 26926,
"cds_start": 78017,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 186,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.78017C>G",
"hgvs_p": "p.Ser26006Cys",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 354,
"exon_rank_end": null,
"exon_count": 359,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.104105C>G",
"hgvs_p": "p.Ser34702Cys",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
"transcript_support_level": null,
"aa_start": 34702,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 312,
"exon_rank_end": null,
"exon_count": 317,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.100217C>G",
"hgvs_p": "p.Ser33406Cys",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
"transcript_support_level": null,
"aa_start": 33406,
"aa_end": null,
"aa_length": 34326,
"cds_start": 100217,
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"cdna_start": 100442,
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"cdna_length": 104229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 308,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.99881C>G",
"hgvs_p": "p.Ser33294Cys",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
"transcript_support_level": null,
"aa_start": 33294,
"aa_end": null,
"aa_length": 34214,
"cds_start": 99881,
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"cds_length": 102645,
"cdna_start": 100106,
"cdna_end": null,
"cdna_length": 103893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 305,
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"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
"gene_hgnc_id": 44124,
"hgvs_c": "n.446+7767G>C",
"hgvs_p": null,
"transcript": "NR_038271.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2069,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
"gene_hgnc_id": 44124,
"hgvs_c": "n.220-4329G>C",
"hgvs_p": null,
"transcript": "NR_038272.1",
"protein_id": null,
"transcript_support_level": null,
"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
}
],
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"dbsnp": "rs3813249",
"frequency_reference_population": 0.00018339233,
"hom_count_reference_population": 1,
"allele_count_reference_population": 296,
"gnomad_exomes_af": 0.000192929,
"gnomad_genomes_af": 0.0000918949,
"gnomad_exomes_ac": 282,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009042203426361084,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.2505,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.694,
"phylop100way_prediction": "Pathogenic",
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000589042.5",
"gene_symbol": "TTN",
"hgnc_id": 12403,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.105212C>G",
"hgvs_p": "p.Ser35071Cys"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000442329.8",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.514G>C",
"hgvs_p": null
}
],
"clinvar_disease": " 9, myofibrillar, with early respiratory failure,Autosomal recessive limb-girdle muscular dystrophy type 2J,Dilated cardiomyopathy 1G,Early-onset myopathy with fatal cardiomyopathy,Myopathy,TTN-related disorder,Tibial muscular dystrophy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:3 B:2",
"phenotype_combined": "not specified|Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|TTN-related disorder|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}