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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: 2-178607307-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178607307&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178607307,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 278,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.53295T>C",
"hgvs_p": "p.Pro17765Pro",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 17765,
"aa_end": null,
"aa_length": 35991,
"cds_start": 53295,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 53520,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 278,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.53295T>C",
"hgvs_p": "p.Pro17765Pro",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 17765,
"aa_end": null,
"aa_length": 35991,
"cds_start": 53295,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 53520,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 276,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.53139T>C",
"hgvs_p": "p.Pro17713Pro",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 17713,
"aa_end": null,
"aa_length": 35939,
"cds_start": 53139,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 53364,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 276,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.53019T>C",
"hgvs_p": "p.Pro17673Pro",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 17673,
"aa_end": null,
"aa_length": 35899,
"cds_start": 53019,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 53244,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 271,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.52737T>C",
"hgvs_p": "p.Pro17579Pro",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 17579,
"aa_end": null,
"aa_length": 35805,
"cds_start": 52737,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 52962,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 280,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.53295T>C",
"hgvs_p": "p.Pro17765Pro",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 17765,
"aa_end": null,
"aa_length": 35991,
"cds_start": 53295,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 53784,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 277,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.53211T>C",
"hgvs_p": "p.Pro17737Pro",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 17737,
"aa_end": null,
"aa_length": 35963,
"cds_start": 53211,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 53436,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 275,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.52881T>C",
"hgvs_p": "p.Pro17627Pro",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 17627,
"aa_end": null,
"aa_length": 35853,
"cds_start": 52881,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 53106,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 228,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.48372T>C",
"hgvs_p": "p.Pro16124Pro",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 16124,
"aa_end": null,
"aa_length": 34350,
"cds_start": 48372,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 48597,
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"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 228,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.48372T>C",
"hgvs_p": "p.Pro16124Pro",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 16124,
"aa_end": null,
"aa_length": 34350,
"cds_start": 48372,
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"cds_length": 103053,
"cdna_start": 48597,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 227,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.45591T>C",
"hgvs_p": "p.Pro15197Pro",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 15197,
"aa_end": null,
"aa_length": 33423,
"cds_start": 45591,
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"cdna_start": 45816,
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},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 227,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.45591T>C",
"hgvs_p": "p.Pro15197Pro",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
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"cds_start": 45591,
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},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 107,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.26676T>C",
"hgvs_p": "p.Pro8892Pro",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
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},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": 106,
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"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 107,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.26475T>C",
"hgvs_p": "p.Pro8825Pro",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 106,
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"exon_count": 191,
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"gene_symbol": "TTN",
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"hgvs_c": "c.26475T>C",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 106,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.26100T>C",
"hgvs_p": "p.Pro8700Pro",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.26100T>C",
"hgvs_p": "p.Pro8700Pro",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
"transcript_support_level": 5,
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},
{
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],
"exon_rank": 274,
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"gene_symbol": "TTN",
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"hgvs_c": "c.52188T>C",
"hgvs_p": "p.Pro17396Pro",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.48300T>C",
"hgvs_p": "p.Pro16100Pro",
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},
{
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],
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"gene_symbol": "TTN",
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"hgvs_c": "c.47964T>C",
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"transcript": "XM_047445661.1",
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 225,
"exon_rank_end": null,
"exon_count": 310,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47733T>C",
"hgvs_p": "p.Pro15911Pro",
"transcript": "XM_024453095.1",
"protein_id": "XP_024308863.1",
"transcript_support_level": null,
"aa_start": 15911,
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},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 251,
"exon_rank_end": null,
"exon_count": 336,
"intron_rank": null,
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"clinvar_review_status": "criteria provided, conflicting classifications",
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"phenotype_combined": "not provided|Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G|Cardiovascular phenotype|not specified",
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}
],
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}