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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: 12-71840169-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=71840169&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 71840169,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000485960.7",
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.30+358G>A",
"hgvs_p": null,
"transcript": "NM_001146213.3",
"protein_id": "NP_001139685.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 674,
"cds_start": -4,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": "ENST00000485960.7",
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.30+358G>A",
"hgvs_p": null,
"transcript": "ENST00000485960.7",
"protein_id": "ENSP00000420678.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 674,
"cds_start": -4,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": "NM_001146213.3",
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.30+358G>A",
"hgvs_p": null,
"transcript": "ENST00000550746.5",
"protein_id": "ENSP00000448182.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": -4,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6184,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.-337+358G>A",
"hgvs_p": null,
"transcript": "ENST00000491063.5",
"protein_id": "ENSP00000418091.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "n.30+358G>A",
"hgvs_p": null,
"transcript": "ENST00000462788.6",
"protein_id": "ENSP00000418467.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1995,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.30+358G>A",
"hgvs_p": null,
"transcript": "NM_022771.6",
"protein_id": "NP_073608.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": -4,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
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"cdna_length": 3208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.-39+358G>A",
"hgvs_p": null,
"transcript": "ENST00000319106.12",
"protein_id": "ENSP00000318262.6",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 682,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2159,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.30+358G>A",
"hgvs_p": null,
"transcript": "NM_001385848.1",
"protein_id": "NP_001372777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": -4,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3151,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.30+358G>A",
"hgvs_p": null,
"transcript": "NM_001385849.1",
"protein_id": "NP_001372778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": -4,
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"cds_length": 1992,
"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "TBC1D15",
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"hgvs_c": "c.30+358G>A",
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"transcript": "NM_001385850.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "TBC1D15",
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"hgvs_c": "c.30+358G>A",
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"transcript": "NM_001385851.1",
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},
{
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],
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],
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},
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],
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},
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],
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"hgvs_c": "n.30+358G>A",
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],
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},
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],
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}