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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: 3-122920162-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=122920162&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 122920162,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000357599.8",
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1688+1753T>C",
"hgvs_p": null,
"transcript": "NM_001031702.4",
"protein_id": "NP_001026872.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": -4,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": "ENST00000357599.8",
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1688+1753T>C",
"hgvs_p": null,
"transcript": "ENST00000357599.8",
"protein_id": "ENSP00000350215.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": -4,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": "NM_001031702.4",
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1850+1753T>C",
"hgvs_p": null,
"transcript": "NM_001256347.1",
"protein_id": "NP_001243276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1205,
"cds_start": -4,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4579,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1850+1753T>C",
"hgvs_p": null,
"transcript": "ENST00000451055.6",
"protein_id": "ENSP00000389588.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1205,
"cds_start": -4,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4579,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1760+1753T>C",
"hgvs_p": null,
"transcript": "NM_001437563.1",
"protein_id": "NP_001424492.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1175,
"cds_start": -4,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4813,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1760+1753T>C",
"hgvs_p": null,
"transcript": "NM_001437565.1",
"protein_id": "NP_001424494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1174,
"cds_start": -4,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4810,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1688+1753T>C",
"hgvs_p": null,
"transcript": "NM_001256346.2",
"protein_id": "NP_001243275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": -4,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5009,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1688+1753T>C",
"hgvs_p": null,
"transcript": "ENST00000616742.4",
"protein_id": "ENSP00000479602.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": -4,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4933,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1688+1753T>C",
"hgvs_p": null,
"transcript": "NM_001437573.1",
"protein_id": "NP_001424502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1150,
"cds_start": -4,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4738,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1688+1753T>C",
"hgvs_p": null,
"transcript": "NM_001437623.1",
"protein_id": "NP_001424552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1150,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1688+1753T>C",
"hgvs_p": null,
"transcript": "NM_001437550.1",
"protein_id": "NP_001424479.1",
"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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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 11,
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"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1586+1753T>C",
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"transcript": "NM_001410801.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 11,
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"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1586+1753T>C",
"hgvs_p": null,
"transcript": "ENST00000650207.1",
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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": 22,
"intron_rank": 11,
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"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1514+1753T>C",
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"transcript": "NM_001437548.1",
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},
{
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],
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"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1514+1753T>C",
"hgvs_p": null,
"transcript": "ENST00000648990.1",
"protein_id": "ENSP00000497595.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 12,
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"gene_symbol": "SEMA5B",
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"hgvs_c": "c.1688+1753T>C",
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"transcript": "ENST00000393583.6",
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},
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],
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"intron_rank": 11,
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"gene_symbol": "SEMA5B",
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"hgvs_c": "c.1514+1753T>C",
"hgvs_p": null,
"transcript": "NM_001437562.1",
"protein_id": "NP_001424491.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 11,
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"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1514+1753T>C",
"hgvs_p": null,
"transcript": "NM_001256348.2",
"protein_id": "NP_001243277.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "SEMA5B",
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"hgvs_c": "c.1514+1753T>C",
"hgvs_p": null,
"transcript": "ENST00000195173.8",
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],
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"intron_rank_end": null,
"gene_symbol": "SEMA5B",
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"hgvs_c": "n.1688+1753T>C",
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"transcript": "ENST00000475244.5",
"protein_id": "ENSP00000417570.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 12,
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"gene_symbol": "SEMA5B",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1760+1753T>C",
"hgvs_p": null,
"transcript": "XM_047448346.1",
"protein_id": "XP_047304302.1",
"transcript_support_level": null,
"aa_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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SEMA5B",
"gene_hgnc_id": 10737,
"hgvs_c": "c.1688+1753T>C",
"hgvs_p": null,
"transcript": "XM_047448351.1",
"protein_id": "XP_047304307.1",
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
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}
],
"message": null
}