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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: 12-132865194-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=132865194&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 132865194,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001161344.1",
"consequences": [
{
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.584-3560G>A",
"hgvs_p": null,
"transcript": "NM_001161346.2",
"protein_id": "NP_001154818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": null,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000450056.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161346.2"
},
{
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.584-3560G>A",
"hgvs_p": null,
"transcript": "ENST00000450056.7",
"protein_id": "ENSP00000398735.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": null,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001161346.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450056.7"
},
{
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.620-3560G>A",
"hgvs_p": null,
"transcript": "ENST00000432561.6",
"protein_id": "ENSP00000392395.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": null,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432561.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "n.20-3560G>A",
"hgvs_p": null,
"transcript": "ENST00000315585.11",
"protein_id": "ENSP00000320557.8",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000315585.11"
},
{
"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": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.743-2769G>A",
"hgvs_p": null,
"transcript": "ENST00000928597.1",
"protein_id": "ENSP00000598656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": null,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928597.1"
},
{
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.707-2769G>A",
"hgvs_p": null,
"transcript": "ENST00000928604.1",
"protein_id": "ENSP00000598663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": null,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928604.1"
},
{
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.743-3560G>A",
"hgvs_p": null,
"transcript": "ENST00000902547.1",
"protein_id": "ENSP00000572606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": null,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902547.1"
},
{
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.743-3560G>A",
"hgvs_p": null,
"transcript": "ENST00000928606.1",
"protein_id": "ENSP00000598665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 704,
"cds_start": null,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928606.1"
},
{
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.743-3560G>A",
"hgvs_p": null,
"transcript": "ENST00000970964.1",
"protein_id": "ENSP00000641023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 704,
"cds_start": null,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970964.1"
},
{
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.716-3560G>A",
"hgvs_p": null,
"transcript": "ENST00000970966.1",
"protein_id": "ENSP00000641025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 696,
"cds_start": null,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970966.1"
},
{
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.620-2769G>A",
"hgvs_p": null,
"transcript": "ENST00000902532.1",
"protein_id": "ENSP00000572591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": null,
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"cds_length": 2088,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902532.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.620-2769G>A",
"hgvs_p": null,
"transcript": "ENST00000902546.1",
"protein_id": "ENSP00000572605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902546.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.707-3560G>A",
"hgvs_p": null,
"transcript": "ENST00000902535.1",
"protein_id": "ENSP00000572594.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902535.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 6,
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"gene_symbol": "CHFR",
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"hgvs_c": "c.707-3560G>A",
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"transcript": "ENST00000970970.1",
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"biotype": "protein_coding",
"feature": "ENST00000970970.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.707-3560G>A",
"hgvs_p": null,
"transcript": "ENST00000902536.1",
"protein_id": "ENSP00000572595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000902536.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 6,
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"gene_symbol": "CHFR",
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"hgvs_c": "c.707-3560G>A",
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"transcript": "ENST00000928605.1",
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"biotype": "protein_coding",
"feature": "ENST00000928605.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.680-3560G>A",
"hgvs_p": null,
"transcript": "ENST00000902542.1",
"protein_id": "ENSP00000572601.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000902542.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.584-2769G>A",
"hgvs_p": null,
"transcript": "ENST00000902533.1",
"protein_id": "ENSP00000572592.1",
"transcript_support_level": null,
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"aa_end": null,
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"biotype": "protein_coding",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CHFR",
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"hgvs_c": "c.584-2769G>A",
"hgvs_p": null,
"transcript": "ENST00000902530.1",
"protein_id": "ENSP00000572589.1",
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"feature": "ENST00000902530.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.584-3560G>A",
"hgvs_p": null,
"transcript": "ENST00000902544.1",
"protein_id": "ENSP00000572603.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.584-3560G>A",
"hgvs_p": null,
"transcript": "ENST00000970967.1",
"protein_id": "ENSP00000641026.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970967.1"
},
{
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.620-3560G>A",
"hgvs_p": null,
"transcript": "NM_001161344.1",
"protein_id": "NP_001154816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": null,
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"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161344.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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