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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: 17-76472470-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76472470&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 76472470,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000675367.1",
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2064+216T>A",
"hgvs_p": null,
"transcript": "NM_001005498.4",
"protein_id": "NP_001005498.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 827,
"cds_start": -4,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3511,
"mane_select": "ENST00000675367.1",
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2064+216T>A",
"hgvs_p": null,
"transcript": "ENST00000675367.1",
"protein_id": "ENSP00000501790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 827,
"cds_start": -4,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3511,
"mane_select": "NM_001005498.4",
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2151+216T>A",
"hgvs_p": null,
"transcript": "ENST00000313080.8",
"protein_id": "ENSP00000322775.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": -4,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "n.1503+216T>A",
"hgvs_p": null,
"transcript": "ENST00000590168.5",
"protein_id": null,
"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": 2665,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2151+216T>A",
"hgvs_p": null,
"transcript": "NM_024599.5",
"protein_id": "NP_078875.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": -4,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3605,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2064+216T>A",
"hgvs_p": null,
"transcript": "NM_001376228.1",
"protein_id": "NP_001363157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 827,
"cds_start": -4,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3928,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2064+216T>A",
"hgvs_p": null,
"transcript": "NM_001376229.1",
"protein_id": "NP_001363158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 827,
"cds_start": -4,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4151,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2064+216T>A",
"hgvs_p": null,
"transcript": "NM_001376230.1",
"protein_id": "NP_001363159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 827,
"cds_start": -4,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3723,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2064+216T>A",
"hgvs_p": null,
"transcript": "ENST00000591885.5",
"protein_id": "ENSP00000466867.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 827,
"cds_start": -4,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3599,
"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": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.225+216T>A",
"hgvs_p": null,
"transcript": "ENST00000591860.1",
"protein_id": "ENSP00000467468.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": -4,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
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"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "n.2783+216T>A",
"hgvs_p": null,
"transcript": "NR_164785.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 19,
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"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "n.2525+216T>A",
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"transcript": "NR_164786.1",
"protein_id": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "n.2841+216T>A",
"hgvs_p": null,
"transcript": "NR_164787.1",
"protein_id": null,
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"aa_start": null,
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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": 18,
"intron_rank_end": null,
"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2151+216T>A",
"hgvs_p": null,
"transcript": "XM_005257669.4",
"protein_id": "XP_005257726.1",
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},
{
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],
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"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2151+216T>A",
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"transcript": "XM_047436743.1",
"protein_id": "XP_047292699.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 18,
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"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2151+216T>A",
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"transcript": "XM_047436744.1",
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},
{
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],
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"gene_symbol": "RHBDF2",
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"hgvs_c": "c.2151+216T>A",
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"transcript": "XM_047436745.1",
"protein_id": "XP_047292701.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 20,
"intron_rank": 19,
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"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2151+216T>A",
"hgvs_p": null,
"transcript": "XM_047436746.1",
"protein_id": "XP_047292702.1",
"transcript_support_level": null,
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"mane_select": null,
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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": 18,
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"gene_symbol": "RHBDF2",
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"hgvs_c": "c.2151+216T>A",
"hgvs_p": null,
"transcript": "XM_047436747.1",
"protein_id": "XP_047292703.1",
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],
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"gene_symbol": "RHBDF2",
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},
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],
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"intron_rank": 18,
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"gene_symbol": "RHBDF2",
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"hgvs_c": "c.2151+216T>A",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 19,
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"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2151+216T>A",
"hgvs_p": null,
"transcript": "XM_047436750.1",
"protein_id": "XP_047292706.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RHBDF2",
"gene_hgnc_id": 20788,
"hgvs_c": "c.2064+216T>A",
"hgvs_p": null,
"transcript": "XM_011525249.3",
"protein_id": "XP_011523551.1",
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}