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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: 2-178617456-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178617456&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178617456,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 254,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47629C>T",
"hgvs_p": "p.Gln15877*",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 15877,
"aa_end": null,
"aa_length": 35991,
"cds_start": 47629,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 47854,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 254,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47629C>T",
"hgvs_p": "p.Gln15877*",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 15877,
"aa_end": null,
"aa_length": 35991,
"cds_start": 47629,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 47854,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 252,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47473C>T",
"hgvs_p": "p.Gln15825*",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 15825,
"aa_end": null,
"aa_length": 35939,
"cds_start": 47473,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 47698,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 252,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47353C>T",
"hgvs_p": "p.Gln15785*",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 15785,
"aa_end": null,
"aa_length": 35899,
"cds_start": 47353,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 47578,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 247,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47071C>T",
"hgvs_p": "p.Gln15691*",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 15691,
"aa_end": null,
"aa_length": 35805,
"cds_start": 47071,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 47296,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 256,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47629C>T",
"hgvs_p": "p.Gln15877*",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 15877,
"aa_end": null,
"aa_length": 35991,
"cds_start": 47629,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 48118,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 253,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47545C>T",
"hgvs_p": "p.Gln15849*",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 15849,
"aa_end": null,
"aa_length": 35963,
"cds_start": 47545,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 47770,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 251,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47215C>T",
"hgvs_p": "p.Gln15739*",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 15739,
"aa_end": null,
"aa_length": 35853,
"cds_start": 47215,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 47440,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 204,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42706C>T",
"hgvs_p": "p.Gln14236*",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 14236,
"aa_end": null,
"aa_length": 34350,
"cds_start": 42706,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 42931,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 204,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42706C>T",
"hgvs_p": "p.Gln14236*",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 14236,
"aa_end": null,
"aa_length": 34350,
"cds_start": 42706,
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"cds_length": 103053,
"cdna_start": 42931,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 203,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.39925C>T",
"hgvs_p": "p.Gln13309*",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 13309,
"aa_end": null,
"aa_length": 33423,
"cds_start": 39925,
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"cds_length": 100272,
"cdna_start": 40150,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 203,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.39925C>T",
"hgvs_p": "p.Gln13309*",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
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"aa_start": 13309,
"aa_end": null,
"aa_length": 33423,
"cds_start": 39925,
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"cdna_start": 40150,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.21010C>T",
"hgvs_p": "p.Gln7004*",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
"transcript_support_level": null,
"aa_start": 7004,
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"aa_length": 27118,
"cds_start": 21010,
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"cdna_start": 21235,
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},
{
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"strand": false,
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],
"exon_rank": 82,
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"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.21010C>T",
"hgvs_p": "p.Gln7004*",
"transcript": "ENST00000342175.12",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20809C>T",
"hgvs_p": "p.Gln6937*",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
"transcript_support_level": null,
"aa_start": 6937,
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"aa_length": 27051,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20809C>T",
"hgvs_p": "p.Gln6937*",
"transcript": "ENST00000359218.11",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20434C>T",
"hgvs_p": "p.Gln6812*",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20434C>T",
"hgvs_p": "p.Gln6812*",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
"transcript_support_level": 5,
"aa_start": 6812,
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},
{
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],
"exon_rank": 250,
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"exon_count": 359,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46522C>T",
"hgvs_p": "p.Gln15508*",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": 208,
"exon_rank_end": null,
"exon_count": 317,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42634C>T",
"hgvs_p": "p.Gln14212*",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
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},
{
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],
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"exon_count": 313,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42298C>T",
"hgvs_p": "p.Gln14100*",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
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"aa_start": 14100,
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"cds_start": 42298,
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"cdna_start": 42523,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 201,
"exon_rank_end": null,
"exon_count": 310,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42067C>T",
"hgvs_p": "p.Gln14023*",
"transcript": "XM_024453095.1",
"protein_id": "XP_024308863.1",
"transcript_support_level": null,
"aa_start": 14023,
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"aa_length": 34137,
"cds_start": 42067,
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"cdna_start": 42292,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 227,
"exon_rank_end": null,
"exon_count": 336,
"intron_rank": null,
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"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "not provided|Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J",
"pathogenicity_classification_combined": "Likely pathogenic",
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}
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}