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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: 2-32532171-G-GTGTGTGTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=32532171&ref=G&alt=GTGTGTGTA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 32532171,
"ref": "G",
"alt": "GTGTGTGTA",
"effect": "intron_variant",
"transcript": "ENST00000421745.7",
"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": 74,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.12291+620_12291+621insTGTGTGTA",
"hgvs_p": null,
"transcript": "NM_016252.4",
"protein_id": "NP_057336.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4857,
"cds_start": -4,
"cds_end": null,
"cds_length": 14574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15687,
"mane_select": "ENST00000421745.7",
"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": 74,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.12291+620_12291+621insTGTGTGTA",
"hgvs_p": null,
"transcript": "ENST00000421745.7",
"protein_id": "ENSP00000393596.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 4857,
"cds_start": -4,
"cds_end": null,
"cds_length": 14574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15687,
"mane_select": "NM_016252.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR558",
"gene_hgnc_id": 32814,
"hgvs_c": "n.19_20insTGTGTGTA",
"hgvs_p": null,
"transcript": "ENST00000384920.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 94,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR558",
"gene_hgnc_id": 32814,
"hgvs_c": "n.19_20insTGTGTGTA",
"hgvs_p": null,
"transcript": "NR_030285.1",
"protein_id": null,
"transcript_support_level": null,
"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": 94,
"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": 74,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.12288+620_12288+621insTGTGTGTA",
"hgvs_p": null,
"transcript": "NM_001378125.1",
"protein_id": "NP_001365054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4856,
"cds_start": -4,
"cds_end": null,
"cds_length": 14571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15575,
"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": 73,
"intron_rank": 60,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.12240+620_12240+621insTGTGTGTA",
"hgvs_p": null,
"transcript": "ENST00000700518.1",
"protein_id": "ENSP00000515025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4840,
"cds_start": -4,
"cds_end": null,
"cds_length": 14523,
"cdna_start": null,
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"cdna_length": 16190,
"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": 74,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.12231+620_12231+621insTGTGTGTA",
"hgvs_p": null,
"transcript": "ENST00000700519.1",
"protein_id": "ENSP00000515026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4837,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 16181,
"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": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "n.798+620_798+621insTGTGTGTA",
"hgvs_p": null,
"transcript": "ENST00000471232.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4226,
"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": 74,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.12360+620_12360+621insTGTGTGTA",
"hgvs_p": null,
"transcript": "XM_005264450.5",
"protein_id": "XP_005264507.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4880,
"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 74,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.12354+620_12354+621insTGTGTGTA",
"hgvs_p": null,
"transcript": "XM_006712054.4",
"protein_id": "XP_006712117.1",
"transcript_support_level": null,
"aa_start": 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_end": null,
"gene_symbol": "BIRC6",
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"hgvs_c": "c.12345+620_12345+621insTGTGTGTA",
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"transcript": "XM_005264451.5",
"protein_id": "XP_005264508.2",
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},
{
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],
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"gene_symbol": "BIRC6",
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},
{
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],
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"gene_symbol": "BIRC6",
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},
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],
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"gene_symbol": "BIRC6",
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},
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],
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"gene_symbol": "BIRC6",
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"hgvs_c": "c.12327+620_12327+621insTGTGTGTA",
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"transcript": "XM_047445160.1",
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},
{
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],
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"gene_symbol": "BIRC6",
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],
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"gene_symbol": "BIRC6",
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},
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],
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"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.12312+620_12312+621insTGTGTGTA",
"hgvs_p": null,
"transcript": "XM_006712055.4",
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],
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"gene_symbol": "BIRC6",
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"hgvs_c": "c.12300+620_12300+621insTGTGTGTA",
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},
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],
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}
],
"message": null
}