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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: 19-14516238-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=14516238&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 14516238,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000254322.3",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.793-68C>T",
"hgvs_p": null,
"transcript": "NM_006145.3",
"protein_id": "NP_006136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": "ENST00000254322.3",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.793-68C>T",
"hgvs_p": null,
"transcript": "ENST00000254322.3",
"protein_id": "ENSP00000254322.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": "NM_006145.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.*198C>T",
"hgvs_p": null,
"transcript": "ENST00000595139.2",
"protein_id": "ENSP00000469221.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2534,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.592-68C>T",
"hgvs_p": null,
"transcript": "ENST00000676577.1",
"protein_id": "ENSP00000503351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2074,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "NM_001300914.2",
"protein_id": "NP_001287843.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2330,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "NM_001313964.2",
"protein_id": "NP_001300893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2130,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "ENST00000396969.8",
"protein_id": "ENSP00000444212.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1287,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "ENST00000594099.6",
"protein_id": "ENSP00000470460.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2600,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "ENST00000595992.6",
"protein_id": "ENSP00000470596.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1237,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "ENST00000596075.2",
"protein_id": "ENSP00000471603.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2278,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "ENST00000596853.6",
"protein_id": "ENSP00000470063.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2137,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "ENST00000598235.2",
"protein_id": "ENSP00000471073.2",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "ENST00000598692.2",
"protein_id": "ENSP00000472886.2",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 240,
"cds_start": -4,
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"cdna_start": 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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "ENST00000601533.6",
"protein_id": "ENSP00000471798.2",
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},
{
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"strand": false,
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"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "ENST00000676515.1",
"protein_id": "ENSP00000504619.1",
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "ENST00000676982.1",
"protein_id": "ENSP00000504186.1",
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},
{
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],
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"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
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"transcript": "ENST00000677204.1",
"protein_id": "ENSP00000503027.1",
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "ENST00000677762.1",
"protein_id": "ENSP00000503810.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.493-68C>T",
"hgvs_p": null,
"transcript": "ENST00000678009.1",
"protein_id": "ENSP00000504352.1",
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},
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"consequences": [
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],
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"gene_symbol": "DNAJB1",
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"hgvs_c": "c.493-68C>T",
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},
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],
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"intron_rank": 5,
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"gene_symbol": "DNAJB1",
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"transcript": "ENST00000679223.2",
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},
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.-84-68C>T",
"hgvs_p": null,
"transcript": "ENST00000677848.1",
"protein_id": "ENSP00000504678.1",
"transcript_support_level": 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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAJB1",
"gene_hgnc_id": 5270,
"hgvs_c": "c.-84-68C>T",
"hgvs_p": null,
"transcript": "ENST00000678338.1",
"protein_id": "ENSP00000502888.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 48,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
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{
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"verdict": "Benign",
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"clinvar_disease": "",
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}
],
"message": null
}