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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: 19-58237248-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58237248&ref=G&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "19",
"pos": 58237248,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000687789.1",
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
"hgvs_p": null,
"transcript": "NM_014480.4",
"protein_id": "NP_055295.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "ENST00000687789.1",
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
"hgvs_p": null,
"transcript": "ENST00000687789.1",
"protein_id": "ENSP00000510489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "NM_014480.4",
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
"hgvs_p": null,
"transcript": "ENST00000596652.5",
"protein_id": "ENSP00000469635.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2818,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
"hgvs_p": null,
"transcript": "ENST00000594384.5",
"protein_id": "ENSP00000472614.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 588,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
"hgvs_p": null,
"transcript": "ENST00000596825.5",
"protein_id": "ENSP00000472512.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3516,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
"hgvs_p": null,
"transcript": "ENST00000599227.5",
"protein_id": "ENSP00000471480.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283515",
"gene_hgnc_id": null,
"hgvs_c": "n.-59-6717G>A",
"hgvs_p": null,
"transcript": "ENST00000637233.1",
"protein_id": "ENSP00000490395.1",
"transcript_support_level": 5,
"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": 3042,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-243-4715G>A",
"hgvs_p": null,
"transcript": "NM_001387410.1",
"protein_id": "NP_001374339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3648,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-243-4715G>A",
"hgvs_p": null,
"transcript": "NM_001387413.1",
"protein_id": "NP_001374342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3958,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
"hgvs_p": null,
"transcript": "NM_001320767.2",
"protein_id": "NP_001307696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
"hgvs_p": null,
"transcript": "NM_001320769.2",
"protein_id": "NP_001307698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
"hgvs_p": null,
"transcript": "NM_001387390.1",
"protein_id": "NP_001374319.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-145-1G>A",
"hgvs_p": null,
"transcript": "NM_001387391.1",
"protein_id": "NP_001374320.1",
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},
{
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
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"transcript": "NM_001387392.1",
"protein_id": "NP_001374321.1",
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},
{
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],
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"exon_count": 8,
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"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-202-6717G>A",
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"transcript": "NM_001387415.1",
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"cdna_start": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
"hgvs_p": null,
"transcript": "NM_001320770.2",
"protein_id": "NP_001307699.1",
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{
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],
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"gene_symbol": "ZNF544",
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"hgvs_c": "c.-59-6717G>A",
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"transcript": "NM_001320771.2",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
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"transcript": "NM_001320773.2",
"protein_id": "NP_001307702.1",
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},
{
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"strand": true,
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"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "ZNF544",
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"hgvs_c": "c.-59-6717G>A",
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"transcript": "ENST00000600044.5",
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{
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],
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"gene_symbol": "ZNF544",
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"hgvs_c": "c.-59-6717G>A",
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"transcript": "ENST00000600220.5",
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{
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],
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"intron_rank": 1,
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"gene_symbol": "ZNF544",
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"transcript": "ENST00000599953.1",
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},
{
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"protein_coding": true,
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],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
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"transcript": "NM_001320774.2",
"protein_id": "NP_001307703.1",
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF544",
"gene_hgnc_id": 16759,
"hgvs_c": "c.-59-6717G>A",
"hgvs_p": null,
"transcript": "NM_001387393.1",
"protein_id": "NP_001374322.1",
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{
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}
],
"message": null
}