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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: 4-102283577-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=102283577&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 102283577,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000356736.5",
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.841-15498A>T",
"hgvs_p": null,
"transcript": "NM_001135146.2",
"protein_id": "NP_001128618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": "ENST00000356736.5",
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.841-15498A>T",
"hgvs_p": null,
"transcript": "ENST00000356736.5",
"protein_id": "ENSP00000349174.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": "NM_001135146.2",
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.841-15498A>T",
"hgvs_p": null,
"transcript": "ENST00000394833.6",
"protein_id": "ENSP00000378310.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3238,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.841-15498A>T",
"hgvs_p": null,
"transcript": "NM_022154.5",
"protein_id": "NP_071437.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3292,
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.841-15498A>T",
"hgvs_p": null,
"transcript": "ENST00000682227.1",
"protein_id": "ENSP00000508363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3068,
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.841-15498A>T",
"hgvs_p": null,
"transcript": "ENST00000682932.1",
"protein_id": "ENSP00000507414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3085,
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.841-15498A>T",
"hgvs_p": null,
"transcript": "ENST00000683412.1",
"protein_id": "ENSP00000507538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3053,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.841-15498A>T",
"hgvs_p": null,
"transcript": "ENST00000683221.1",
"protein_id": "ENSP00000508093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": -4,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2410,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.841-15498A>T",
"hgvs_p": null,
"transcript": "NM_001135147.1",
"protein_id": "NP_001128619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": -4,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.640-15498A>T",
"hgvs_p": null,
"transcript": "NM_001135148.2",
"protein_id": "NP_001128620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2605,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "n.865+2372A>T",
"hgvs_p": null,
"transcript": "ENST00000424970.7",
"protein_id": "ENSP00000394548.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "SLC39A8",
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"hgvs_c": "n.173-13783A>T",
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"transcript": "ENST00000512337.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 9,
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"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "n.*986+2372A>T",
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"transcript": "ENST00000682243.1",
"protein_id": "ENSP00000507952.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 12,
"intron_rank": 7,
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"gene_symbol": "SLC39A8",
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"hgvs_c": "n.865+2372A>T",
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},
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],
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"gene_symbol": "SLC39A8",
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"hgvs_c": "n.*962-15498A>T",
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"transcript": "ENST00000683173.1",
"protein_id": "ENSP00000508032.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "SLC39A8",
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},
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],
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"gene_symbol": "SLC39A8",
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"hgvs_c": "n.865+2372A>T",
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"transcript": "ENST00000683462.1",
"protein_id": "ENSP00000507170.1",
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},
{
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],
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"exon_count": 10,
"intron_rank": 8,
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"gene_symbol": "SLC39A8",
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"hgvs_c": "n.*962-15498A>T",
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"transcript": "ENST00000683634.1",
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},
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],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "SLC39A8",
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"hgvs_c": "n.244+2372A>T",
"hgvs_p": null,
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},
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],
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},
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],
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 7,
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"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "n.866-2044A>T",
"hgvs_p": null,
"transcript": "ENST00000684386.1",
"protein_id": "ENSP00000507611.1",
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"biotype": 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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.841-15498A>T",
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"transcript": "XM_024454184.2",
"protein_id": "XP_024309952.1",
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],
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"splice_prediction_selected": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}