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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: 2-178617835-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178617835&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178617835,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 253,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47516T>C",
"hgvs_p": "p.Ile15839Thr",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 15839,
"aa_end": null,
"aa_length": 35991,
"cds_start": 47516,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 47741,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 253,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47516T>C",
"hgvs_p": "p.Ile15839Thr",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 15839,
"aa_end": null,
"aa_length": 35991,
"cds_start": 47516,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 47741,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 251,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47360T>C",
"hgvs_p": "p.Ile15787Thr",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 15787,
"aa_end": null,
"aa_length": 35939,
"cds_start": 47360,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 47585,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 251,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47240T>C",
"hgvs_p": "p.Ile15747Thr",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 15747,
"aa_end": null,
"aa_length": 35899,
"cds_start": 47240,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 47465,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 246,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46958T>C",
"hgvs_p": "p.Ile15653Thr",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 15653,
"aa_end": null,
"aa_length": 35805,
"cds_start": 46958,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 47183,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 255,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47516T>C",
"hgvs_p": "p.Ile15839Thr",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 15839,
"aa_end": null,
"aa_length": 35991,
"cds_start": 47516,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 48005,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 252,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47432T>C",
"hgvs_p": "p.Ile15811Thr",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 15811,
"aa_end": null,
"aa_length": 35963,
"cds_start": 47432,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 47657,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 250,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47102T>C",
"hgvs_p": "p.Ile15701Thr",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 15701,
"aa_end": null,
"aa_length": 35853,
"cds_start": 47102,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 47327,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 203,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42593T>C",
"hgvs_p": "p.Ile14198Thr",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 14198,
"aa_end": null,
"aa_length": 34350,
"cds_start": 42593,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 42818,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 203,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42593T>C",
"hgvs_p": "p.Ile14198Thr",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 14198,
"aa_end": null,
"aa_length": 34350,
"cds_start": 42593,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 42818,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 202,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.39812T>C",
"hgvs_p": "p.Ile13271Thr",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 13271,
"aa_end": null,
"aa_length": 33423,
"cds_start": 39812,
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"cds_length": 100272,
"cdna_start": 40037,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 202,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.39812T>C",
"hgvs_p": "p.Ile13271Thr",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
"transcript_support_level": 5,
"aa_start": 13271,
"aa_end": null,
"aa_length": 33423,
"cds_start": 39812,
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"cdna_start": 40037,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20897T>C",
"hgvs_p": "p.Ile6966Thr",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
"transcript_support_level": null,
"aa_start": 6966,
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"aa_length": 27118,
"cds_start": 20897,
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"cdna_start": 21122,
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},
{
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"strand": false,
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],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.20897T>C",
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"transcript": "ENST00000342175.12",
"protein_id": "ENSP00000340554.6",
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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": 192,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20696T>C",
"hgvs_p": "p.Ile6899Thr",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
"transcript_support_level": null,
"aa_start": 6899,
"aa_end": null,
"aa_length": 27051,
"cds_start": 20696,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.20696T>C",
"hgvs_p": "p.Ile6899Thr",
"transcript": "ENST00000359218.11",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20321T>C",
"hgvs_p": "p.Ile6774Thr",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
"transcript_support_level": null,
"aa_start": 6774,
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"aa_length": 26926,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20321T>C",
"hgvs_p": "p.Ile6774Thr",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
"transcript_support_level": 5,
"aa_start": 6774,
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},
{
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"consequences": [
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],
"exon_rank": 249,
"exon_rank_end": null,
"exon_count": 359,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46409T>C",
"hgvs_p": "p.Ile15470Thr",
"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": 207,
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"exon_count": 317,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42521T>C",
"hgvs_p": "p.Ile14174Thr",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
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},
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42185T>C",
"hgvs_p": "p.Ile14062Thr",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
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"aa_start": 14062,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 200,
"exon_rank_end": null,
"exon_count": 310,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.41954T>C",
"hgvs_p": "p.Ile13985Thr",
"transcript": "XM_024453095.1",
"protein_id": "XP_024308863.1",
"transcript_support_level": null,
"aa_start": 13985,
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"cds_start": 41954,
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"cdna_start": 42179,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G|not provided|Cardiovascular phenotype|not specified",
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}
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}