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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: 1-172222254-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=172222254&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 172222254,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000627582.3",
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.1660-31319A>C",
"hgvs_p": null,
"transcript": "NM_015569.5",
"protein_id": "NP_056384.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 863,
"cds_start": -4,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7627,
"mane_select": "ENST00000627582.3",
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.1660-31319A>C",
"hgvs_p": null,
"transcript": "ENST00000627582.3",
"protein_id": "ENSP00000486701.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 863,
"cds_start": -4,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7627,
"mane_select": "NM_015569.5",
"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": 20,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.1660-31319A>C",
"hgvs_p": null,
"transcript": "ENST00000367731.5",
"protein_id": "ENSP00000356705.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7613,
"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": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.1690-31319A>C",
"hgvs_p": null,
"transcript": "ENST00000485254.3",
"protein_id": "ENSP00000429165.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 858,
"cds_start": -4,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2911,
"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": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.1690-31319A>C",
"hgvs_p": null,
"transcript": "NM_001350204.2",
"protein_id": "NP_001337133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 869,
"cds_start": -4,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7645,
"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": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.1690-31319A>C",
"hgvs_p": null,
"transcript": "ENST00000355305.9",
"protein_id": "ENSP00000347457.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 869,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.1660-31319A>C",
"hgvs_p": null,
"transcript": "NM_001136127.3",
"protein_id": "NP_001129599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
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"cdna_start": null,
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"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": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.1690-31319A>C",
"hgvs_p": null,
"transcript": "NM_001350206.2",
"protein_id": "NP_001337135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 858,
"cds_start": -4,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2885,
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.1660-31319A>C",
"hgvs_p": null,
"transcript": "ENST00000520906.5",
"protein_id": "ENSP00000429701.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": -4,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
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"cdna_length": 4454,
"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "DNM3",
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"hgvs_c": "c.1330-31319A>C",
"hgvs_p": null,
"transcript": "ENST00000688173.1",
"protein_id": "ENSP00000509172.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "DNM3",
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"hgvs_c": "c.1330-31319A>C",
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"transcript": "ENST00000523513.1",
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},
{
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],
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},
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"strand": true,
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],
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"gene_symbol": "DNM3",
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],
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"gene_symbol": "DNM3",
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],
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},
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],
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"hgvs_c": "c.1690-31319A>C",
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],
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},
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"consequences": [
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],
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"gene_symbol": "DNM3",
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"hgvs_c": "c.1561-31319A>C",
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{
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}
],
"message": null
}