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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: 2-178616495-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178616495&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178616495,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 257,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.48296G>A",
"hgvs_p": "p.Arg16099Gln",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 16099,
"aa_end": null,
"aa_length": 35991,
"cds_start": 48296,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 48521,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 257,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.48296G>A",
"hgvs_p": "p.Arg16099Gln",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 16099,
"aa_end": null,
"aa_length": 35991,
"cds_start": 48296,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 48521,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 255,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.48140G>A",
"hgvs_p": "p.Arg16047Gln",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 16047,
"aa_end": null,
"aa_length": 35939,
"cds_start": 48140,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 48365,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 255,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.48020G>A",
"hgvs_p": "p.Arg16007Gln",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 16007,
"aa_end": null,
"aa_length": 35899,
"cds_start": 48020,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 48245,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 250,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47738G>A",
"hgvs_p": "p.Arg15913Gln",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 15913,
"aa_end": null,
"aa_length": 35805,
"cds_start": 47738,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 47963,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 259,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.48296G>A",
"hgvs_p": "p.Arg16099Gln",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 16099,
"aa_end": null,
"aa_length": 35991,
"cds_start": 48296,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 48785,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 256,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.48212G>A",
"hgvs_p": "p.Arg16071Gln",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 16071,
"aa_end": null,
"aa_length": 35963,
"cds_start": 48212,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 48437,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 254,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47882G>A",
"hgvs_p": "p.Arg15961Gln",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 15961,
"aa_end": null,
"aa_length": 35853,
"cds_start": 47882,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 48107,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 207,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43373G>A",
"hgvs_p": "p.Arg14458Gln",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 14458,
"aa_end": null,
"aa_length": 34350,
"cds_start": 43373,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 43598,
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"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 207,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43373G>A",
"hgvs_p": "p.Arg14458Gln",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 14458,
"aa_end": null,
"aa_length": 34350,
"cds_start": 43373,
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"cds_length": 103053,
"cdna_start": 43598,
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"cdna_length": 104301,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 206,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.40592G>A",
"hgvs_p": "p.Arg13531Gln",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 13531,
"aa_end": null,
"aa_length": 33423,
"cds_start": 40592,
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"cdna_start": 40817,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 206,
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"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.40592G>A",
"hgvs_p": "p.Arg13531Gln",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
"transcript_support_level": 5,
"aa_start": 13531,
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},
{
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"consequences": [
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],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.21677G>A",
"hgvs_p": "p.Arg7226Gln",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
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"cds_start": 21677,
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},
{
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],
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"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
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"transcript": "ENST00000342175.12",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.21476G>A",
"hgvs_p": "p.Arg7159Gln",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
"transcript_support_level": null,
"aa_start": 7159,
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},
{
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],
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"exon_count": 191,
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"gene_symbol": "TTN",
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"hgvs_c": "c.21476G>A",
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"transcript": "ENST00000359218.11",
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},
{
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],
"exon_rank": 85,
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"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.21101G>A",
"hgvs_p": "p.Arg7034Gln",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
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},
{
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"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.21101G>A",
"hgvs_p": "p.Arg7034Gln",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
"transcript_support_level": 5,
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},
{
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],
"exon_rank": 253,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.47189G>A",
"hgvs_p": "p.Arg15730Gln",
"transcript": "XM_017004819.1",
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},
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],
"exon_rank": 211,
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"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.43301G>A",
"hgvs_p": "p.Arg14434Gln",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
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},
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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.42965G>A",
"hgvs_p": "p.Arg14322Gln",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 204,
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"exon_count": 310,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.42734G>A",
"hgvs_p": "p.Arg14245Gln",
"transcript": "XM_024453095.1",
"protein_id": "XP_024308863.1",
"transcript_support_level": null,
"aa_start": 14245,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 230,
"exon_rank_end": null,
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
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"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
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}