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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: 10-127142042-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=127142042&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 127142042,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000623213.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2847+14278A>G",
"hgvs_p": null,
"transcript": "NM_001290223.2",
"protein_id": "NP_001277152.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1886,
"cds_start": -4,
"cds_end": null,
"cds_length": 5661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6840,
"mane_select": "ENST00000623213.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2847+14278A>G",
"hgvs_p": null,
"transcript": "ENST00000623213.2",
"protein_id": "ENSP00000485033.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1886,
"cds_start": -4,
"cds_end": null,
"cds_length": 5661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6840,
"mane_select": "NM_001290223.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "INSYN2A",
"gene_hgnc_id": 33859,
"hgvs_c": "c.1257-4022T>C",
"hgvs_p": null,
"transcript": "NM_001039762.3",
"protein_id": "NP_001034851.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4836,
"mane_select": "ENST00000522781.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "INSYN2A",
"gene_hgnc_id": 33859,
"hgvs_c": "c.1257-4022T>C",
"hgvs_p": null,
"transcript": "ENST00000522781.6",
"protein_id": "ENSP00000429763.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4836,
"mane_select": "NM_001039762.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2784+14278A>G",
"hgvs_p": null,
"transcript": "ENST00000280333.9",
"protein_id": "ENSP00000280333.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1865,
"cds_start": -4,
"cds_end": null,
"cds_length": 5598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "INSYN2A",
"gene_hgnc_id": 33859,
"hgvs_c": "c.1185-4022T>C",
"hgvs_p": null,
"transcript": "ENST00000424811.2",
"protein_id": "ENSP00000428730.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2784+14278A>G",
"hgvs_p": null,
"transcript": "NM_001377543.1",
"protein_id": "NP_001364472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1919,
"cds_start": -4,
"cds_end": null,
"cds_length": 5760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2820+14278A>G",
"hgvs_p": null,
"transcript": "NM_001377544.1",
"protein_id": "NP_001364473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1877,
"cds_start": -4,
"cds_end": null,
"cds_length": 5634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2784+14278A>G",
"hgvs_p": null,
"transcript": "NM_001380.5",
"protein_id": "NP_001371.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1865,
"cds_start": -4,
"cds_end": null,
"cds_length": 5598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2847+14278A>G",
"hgvs_p": null,
"transcript": "NM_001377546.1",
"protein_id": "NP_001364475.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1846,
"cds_start": -4,
"cds_end": null,
"cds_length": 5541,
"cdna_start": null,
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"cdna_length": 6720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2721+14278A>G",
"hgvs_p": null,
"transcript": "NM_001377547.1",
"protein_id": "NP_001364476.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 51,
"intron_rank": 26,
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"gene_symbol": "DOCK1",
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"hgvs_c": "c.2700+14278A>G",
"hgvs_p": null,
"transcript": "NM_001377548.1",
"protein_id": "NP_001364477.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 51,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2685+14278A>G",
"hgvs_p": null,
"transcript": "NM_001377550.1",
"protein_id": "NP_001364479.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 51,
"intron_rank": 27,
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"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2784+14278A>G",
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"transcript": "NM_001377553.1",
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},
{
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],
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"gene_symbol": "DOCK1",
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"hgvs_c": "c.2631+14278A>G",
"hgvs_p": null,
"transcript": "NM_001377554.1",
"protein_id": "NP_001364483.1",
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},
{
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"strand": true,
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],
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"intron_rank": 27,
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"gene_symbol": "DOCK1",
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"hgvs_c": "c.2784+14278A>G",
"hgvs_p": null,
"transcript": "NM_001377556.1",
"protein_id": "NP_001364485.1",
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},
{
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],
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"gene_symbol": "DOCK1",
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"hgvs_c": "c.2577+14278A>G",
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"transcript": "NM_001377558.1",
"protein_id": "NP_001364487.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 44,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.1992+14278A>G",
"hgvs_p": null,
"transcript": "NM_001377560.1",
"protein_id": "NP_001364489.1",
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},
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"strand": true,
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],
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"intron_rank": 27,
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"gene_symbol": "DOCK1",
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"hgvs_c": "c.2847+14278A>G",
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"transcript": "NM_001377561.1",
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],
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"gene_symbol": "INSYN2A",
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"hgvs_c": "c.1185-4022T>C",
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"transcript": "ENST00000614311.4",
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},
{
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],
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"gene_symbol": "DOCK1",
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"hgvs_c": "c.2913+14278A>G",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 52,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2850+14278A>G",
"hgvs_p": null,
"transcript": "XM_017015813.3",
"protein_id": "XP_016871302.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 52,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.2829+14278A>G",
"hgvs_p": null,
"transcript": "XM_011539424.2",
"protein_id": "XP_011537726.1",
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