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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: 3-100780521-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=100780521&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 100780521,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001375547.2",
"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": 68,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.4163-312C>A",
"hgvs_p": null,
"transcript": "NM_001375547.2",
"protein_id": "NP_001362476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1786,
"cds_start": null,
"cds_end": null,
"cds_length": 5361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000471714.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375547.2"
},
{
"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": 68,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.4163-312C>A",
"hgvs_p": null,
"transcript": "ENST00000471714.6",
"protein_id": "ENSP00000420524.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1786,
"cds_start": null,
"cds_end": null,
"cds_length": 5361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001375547.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471714.6"
},
{
"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": 35,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.2009-312C>A",
"hgvs_p": null,
"transcript": "ENST00000284322.10",
"protein_id": "ENSP00000284322.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284322.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "n.626-312C>A",
"hgvs_p": null,
"transcript": "ENST00000470336.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470336.5"
},
{
"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": 68,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.4184-312C>A",
"hgvs_p": null,
"transcript": "ENST00000710654.1",
"protein_id": "ENSP00000518403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1793,
"cds_start": null,
"cds_end": null,
"cds_length": 5382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710654.1"
},
{
"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": 67,
"intron_rank": 56,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.4121-312C>A",
"hgvs_p": null,
"transcript": "NM_001375550.1",
"protein_id": "NP_001362479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1772,
"cds_start": null,
"cds_end": null,
"cds_length": 5319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375550.1"
},
{
"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": 67,
"intron_rank": 56,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.4115-312C>A",
"hgvs_p": null,
"transcript": "NM_001375549.2",
"protein_id": "NP_001362478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1770,
"cds_start": null,
"cds_end": null,
"cds_length": 5313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375549.2"
},
{
"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": 65,
"intron_rank": 54,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.3950-312C>A",
"hgvs_p": null,
"transcript": "NM_001349329.2",
"protein_id": "NP_001336258.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1715,
"cds_start": null,
"cds_end": null,
"cds_length": 5148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349329.2"
},
{
"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": 63,
"intron_rank": 52,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.3836-312C>A",
"hgvs_p": null,
"transcript": "ENST00000882230.1",
"protein_id": "ENSP00000552289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1677,
"cds_start": null,
"cds_end": null,
"cds_length": 5034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882230.1"
},
{
"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": 62,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.3758-312C>A",
"hgvs_p": null,
"transcript": "ENST00000882203.1",
"protein_id": "ENSP00000552262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1651,
"cds_start": null,
"cds_end": null,
"cds_length": 4956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882203.1"
},
{
"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": 62,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.3740-312C>A",
"hgvs_p": null,
"transcript": "NM_001349330.2",
"protein_id": "NP_001336259.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1645,
"cds_start": null,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349330.2"
},
{
"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": 58,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.3497-312C>A",
"hgvs_p": null,
"transcript": "ENST00000882239.1",
"protein_id": "ENSP00000552298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1564,
"cds_start": null,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882239.1"
},
{
"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": 57,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.3416-312C>A",
"hgvs_p": null,
"transcript": "NM_001377332.1",
"protein_id": "NP_001364261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1537,
"cds_start": null,
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"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377332.1"
},
{
"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": 49,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.2945-312C>A",
"hgvs_p": null,
"transcript": "ENST00000882206.1",
"protein_id": "ENSP00000552265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": 4143,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882206.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.2837-312C>A",
"hgvs_p": null,
"transcript": "NM_001365642.2",
"protein_id": "NP_001352571.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1344,
"cds_start": null,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365642.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.2624-312C>A",
"hgvs_p": null,
"transcript": "ENST00000882237.1",
"protein_id": "ENSP00000552296.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882237.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.2543-312C>A",
"hgvs_p": null,
"transcript": "ENST00000882199.1",
"protein_id": "ENSP00000552258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1246,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882199.1"
},
{
"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": 43,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.2510-312C>A",
"hgvs_p": null,
"transcript": "ENST00000950966.1",
"protein_id": "ENSP00000621025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": null,
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"cds_length": 3708,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950966.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.2501-312C>A",
"hgvs_p": null,
"transcript": "ENST00000950971.1",
"protein_id": "ENSP00000621030.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000950971.1"
},
{
"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": 43,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.2489-312C>A",
"hgvs_p": null,
"transcript": "ENST00000882219.1",
"protein_id": "ENSP00000552278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1228,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882219.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.2471-312C>A",
"hgvs_p": null,
"transcript": "NM_001349331.2",
"protein_id": "NP_001336260.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": null,
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"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349331.2"
},
{
"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": 43,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ABI3BP",
"gene_hgnc_id": 17265,
"hgvs_c": "c.2471-312C>A",
"hgvs_p": null,
"transcript": "ENST00000486770.7",
"protein_id": "ENSP00000419029.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": null,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486770.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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{
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"verdict": "Likely_benign",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}