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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: 5-177049105-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177049105&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177049105,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000358149.8",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF346",
"gene_hgnc_id": 16403,
"hgvs_c": "c.518-1646A>G",
"hgvs_p": null,
"transcript": "NM_012279.4",
"protein_id": "NP_036411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": "ENST00000358149.8",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF346",
"gene_hgnc_id": 16403,
"hgvs_c": "c.518-1646A>G",
"hgvs_p": null,
"transcript": "ENST00000358149.8",
"protein_id": "ENSP00000350869.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": "NM_012279.4",
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF346",
"gene_hgnc_id": 16403,
"hgvs_c": "c.593-1646A>G",
"hgvs_p": null,
"transcript": "NM_001308213.2",
"protein_id": "NP_001295142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2813,
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF346",
"gene_hgnc_id": 16403,
"hgvs_c": "c.593-1646A>G",
"hgvs_p": null,
"transcript": "ENST00000503039.1",
"protein_id": "ENSP00000424495.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2774,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF346",
"gene_hgnc_id": 16403,
"hgvs_c": "c.518-1598A>G",
"hgvs_p": null,
"transcript": "NM_001363713.2",
"protein_id": "NP_001350642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": -4,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2786,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF346",
"gene_hgnc_id": 16403,
"hgvs_c": "c.518-1598A>G",
"hgvs_p": null,
"transcript": "ENST00000511834.5",
"protein_id": "ENSP00000425725.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": -4,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2306,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF346",
"gene_hgnc_id": 16403,
"hgvs_c": "c.422-1646A>G",
"hgvs_p": null,
"transcript": "NM_001308214.2",
"protein_id": "NP_001295143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
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"cds_length": 789,
"cdna_start": null,
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"cdna_length": 4218,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF346",
"gene_hgnc_id": 16403,
"hgvs_c": "c.422-1646A>G",
"hgvs_p": null,
"transcript": "ENST00000503425.5",
"protein_id": "ENSP00000421212.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1191,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF346",
"gene_hgnc_id": 16403,
"hgvs_c": "c.517+4572A>G",
"hgvs_p": null,
"transcript": "NM_001308215.2",
"protein_id": "NP_001295144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": -4,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
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"cdna_length": 4128,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "ZNF346",
"gene_hgnc_id": 16403,
"hgvs_c": "c.372+7235A>G",
"hgvs_p": null,
"transcript": "NM_001308216.2",
"protein_id": "NP_001295145.1",
"transcript_support_level": null,
"aa_start": 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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "ZNF346",
"gene_hgnc_id": 16403,
"hgvs_c": "c.176-1598A>G",
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"transcript": "NM_001308218.2",
"protein_id": "NP_001295147.1",
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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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],
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"hgvs_c": "n.373-1646A>G",
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"transcript": "ENST00000508155.5",
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],
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"intron_rank": 3,
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],
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],
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"gene_symbol": "ZNF346",
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"hgvs_c": "c.593-1646A>G",
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},
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],
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"intron_rank": 5,
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"gene_symbol": "ZNF346",
"gene_hgnc_id": 16403,
"hgvs_c": "c.593-1598A>G",
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},
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