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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: 1-225289844-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225289844&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225289844,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000682510.1",
"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": 86,
"intron_rank": 54,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.8272-41A>C",
"hgvs_p": null,
"transcript": "NM_001367479.1",
"protein_id": "NP_001354408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4617,
"cds_start": -4,
"cds_end": null,
"cds_length": 13854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14065,
"mane_select": "ENST00000682510.1",
"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": 86,
"intron_rank": 54,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.8272-41A>C",
"hgvs_p": null,
"transcript": "ENST00000682510.1",
"protein_id": "ENSP00000508305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4617,
"cds_start": -4,
"cds_end": null,
"cds_length": 13854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14065,
"mane_select": "NM_001367479.1",
"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": 40,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "n.1384-41A>C",
"hgvs_p": null,
"transcript": "ENST00000327794.10",
"protein_id": "ENSP00000328980.6",
"transcript_support_level": 1,
"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": 8488,
"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": 84,
"intron_rank": 52,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.7993-41A>C",
"hgvs_p": null,
"transcript": "ENST00000430092.5",
"protein_id": "ENSP00000414402.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4515,
"cds_start": -4,
"cds_end": null,
"cds_length": 13548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13763,
"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": 83,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.7993-41A>C",
"hgvs_p": null,
"transcript": "ENST00000439375.6",
"protein_id": "ENSP00000392061.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4515,
"cds_start": -4,
"cds_end": null,
"cds_length": 13548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13548,
"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": 61,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.6034-41A>C",
"hgvs_p": null,
"transcript": "ENST00000445597.6",
"protein_id": "ENSP00000409472.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3507,
"cds_start": -4,
"cds_end": null,
"cds_length": 10524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10524,
"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": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.1384-41A>C",
"hgvs_p": null,
"transcript": "ENST00000638635.1",
"protein_id": "ENSP00000492319.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1475,
"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": 86,
"intron_rank": 54,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.8269-41A>C",
"hgvs_p": null,
"transcript": "XM_011544058.3",
"protein_id": "XP_011542360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4616,
"cds_start": -4,
"cds_end": null,
"cds_length": 13851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14083,
"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": 86,
"intron_rank": 54,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.8224-41A>C",
"hgvs_p": null,
"transcript": "XM_011544059.3",
"protein_id": "XP_011542361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4601,
"cds_start": -4,
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"cds_length": 13806,
"cdna_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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 53,
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"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.8197-41A>C",
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"transcript": "XM_017000295.2",
"protein_id": "XP_016855784.1",
"transcript_support_level": null,
"aa_start": 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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"intron_rank": 53,
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"gene_symbol": "DNAH14",
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"hgvs_c": "c.8179-41A>C",
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"transcript": "XM_006711735.4",
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},
{
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],
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},
{
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],
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},
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],
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],
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],
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"gene_symbol": "DNAH14",
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],
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"gene_symbol": "DNAH14",
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"hgvs_c": "c.8272-41A>C",
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},
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],
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"gene_symbol": "DNAH14",
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