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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: 10-126990564-T-TGAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=126990564&ref=T&alt=TGAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 126990564,
"ref": "T",
"alt": "TGAA",
"effect": "conservative_inframe_insertion",
"transcript": "NM_001290223.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "KV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.442_444dupAAG",
"hgvs_p": "p.Lys148dup",
"transcript": "NM_001290223.2",
"protein_id": "NP_001277152.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1886,
"cds_start": 445,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 6840,
"mane_select": "ENST00000623213.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "KV",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.442_444dupAAG",
"hgvs_p": "p.Lys148dup",
"transcript": "ENST00000623213.2",
"protein_id": "ENSP00000485033.1",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 1886,
"cds_start": 445,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 6840,
"mane_select": "NM_001290223.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "KV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.442_444dupAAG",
"hgvs_p": "p.Lys148dup",
"transcript": "ENST00000280333.9",
"protein_id": "ENSP00000280333.6",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 1865,
"cds_start": 445,
"cds_end": null,
"cds_length": 5598,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "KV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.442_444dupAAG",
"hgvs_p": "p.Lys148dup",
"transcript": "NM_001377543.1",
"protein_id": "NP_001364472.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1919,
"cds_start": 445,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 6939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "KV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.478_480dupAAG",
"hgvs_p": "p.Lys160dup",
"transcript": "NM_001377544.1",
"protein_id": "NP_001364473.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1877,
"cds_start": 481,
"cds_end": null,
"cds_length": 5634,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 6813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "KV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.442_444dupAAG",
"hgvs_p": "p.Lys148dup",
"transcript": "NM_001380.5",
"protein_id": "NP_001371.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1865,
"cds_start": 445,
"cds_end": null,
"cds_length": 5598,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 6777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "KV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.442_444dupAAG",
"hgvs_p": "p.Lys148dup",
"transcript": "NM_001377546.1",
"protein_id": "NP_001364475.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1846,
"cds_start": 445,
"cds_end": null,
"cds_length": 5541,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 6720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "KV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.442_444dupAAG",
"hgvs_p": "p.Lys148dup",
"transcript": "NM_001377547.1",
"protein_id": "NP_001364476.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1844,
"cds_start": 445,
"cds_end": null,
"cds_length": 5535,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 6714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "KV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.358_360dupAAG",
"hgvs_p": "p.Lys120dup",
"transcript": "NM_001377548.1",
"protein_id": "NP_001364477.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1837,
"cds_start": 361,
"cds_end": null,
"cds_length": 5514,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 6693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "KV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.442_444dupAAG",
"hgvs_p": "p.Lys148dup",
"transcript": "NM_001377550.1",
"protein_id": "NP_001364479.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1832,
"cds_start": 445,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 6678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "KV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.442_444dupAAG",
"hgvs_p": "p.Lys148dup",
"transcript": "NM_001377553.1",
"protein_id": "NP_001364482.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1825,
"cds_start": 445,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 535,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
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"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.442_444dupAAG",
"hgvs_p": "p.Lys148dup",
"transcript": "NM_001377554.1",
"protein_id": "NP_001364483.1",
"transcript_support_level": null,
"aa_start": 149,
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"aa_length": 1814,
"cds_start": 445,
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"cdna_start": 535,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "KV",
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 50,
"intron_rank": null,
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"gene_symbol": "DOCK1",
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"hgvs_c": "c.442_444dupAAG",
"hgvs_p": "p.Lys148dup",
"transcript": "NM_001377556.1",
"protein_id": "NP_001364485.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1800,
"cds_start": 445,
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"cdna_start": 535,
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"mane_select": null,
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},
{
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],
"exon_rank": 6,
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"gene_symbol": "DOCK1",
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"transcript": "NM_001377558.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.442_444dupAAG",
"hgvs_p": "p.Lys148dup",
"transcript": "NM_001377561.1",
"protein_id": "NP_001364490.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
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"cds_start": 445,
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"cdna_start": 535,
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"mane_select": null,
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"feature": null
},
{
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],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "DOCK1",
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"hgvs_c": "c.508_510dupAAG",
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"transcript": "XM_011539422.4",
"protein_id": "XP_011537724.1",
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"cds_start": 511,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
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"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.508_510dupAAG",
"hgvs_p": "p.Lys170dup",
"transcript": "XM_017015813.3",
"protein_id": "XP_016871302.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 1887,
"cds_start": 511,
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"cdna_start": 957,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.424_426dupAAG",
"hgvs_p": "p.Lys142dup",
"transcript": "XM_011539424.2",
"protein_id": "XP_011537726.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 427,
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},
{
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"exon_rank": 6,
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"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "DOCK1",
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"hgvs_c": "c.508_510dupAAG",
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"transcript": "XM_017015814.2",
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"feature": null
},
{
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],
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"intron_rank": null,
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"gene_symbol": "DOCK1",
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"hgvs_c": "c.508_510dupAAG",
"hgvs_p": "p.Lys170dup",
"transcript": "XM_047424700.1",
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},
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],
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.442_444dupAAG",
"hgvs_p": "p.Lys148dup",
"transcript": "XM_047424701.1",
"protein_id": "XP_047280657.1",
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"aa_start": 149,
"aa_end": null,
"aa_length": 1025,
"cds_start": 445,
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"cdna_start": 535,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.508_510dupAAG",
"hgvs_p": "p.Lys170dup",
"transcript": "XM_017015817.1",
"protein_id": "XP_016871306.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 972,
"cds_start": 511,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 526,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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}
],
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"computational_source_selected": null,
"splice_score_selected": null,
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"splice_source_selected": null,
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"phylop100way_score": 0.015,
"phylop100way_prediction": "Benign",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
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"PM4_Supporting"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
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"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000627944.1",
"gene_symbol": "ENSG00000223528",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.216-2122_216-2120dupTTC",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}