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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: 3-10063977-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10063977&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 10063977,
"ref": "CT",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_033084.6",
"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": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+69delT",
"hgvs_p": null,
"transcript": "NM_001018115.3",
"protein_id": "NP_001018125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1451,
"cds_start": null,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000675286.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018115.3"
},
{
"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": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+67delT",
"hgvs_p": null,
"transcript": "ENST00000675286.1",
"protein_id": "ENSP00000502379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1451,
"cds_start": null,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001018115.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675286.1"
},
{
"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": 43,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+67delT",
"hgvs_p": null,
"transcript": "ENST00000287647.7",
"protein_id": "ENSP00000287647.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1471,
"cds_start": null,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287647.7"
},
{
"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": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+67delT",
"hgvs_p": null,
"transcript": "ENST00000419585.5",
"protein_id": "ENSP00000398754.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1451,
"cds_start": null,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419585.5"
},
{
"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": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "n.444+67delT",
"hgvs_p": null,
"transcript": "ENST00000421731.5",
"protein_id": "ENSP00000389936.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000421731.5"
},
{
"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": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2019+67delT",
"hgvs_p": null,
"transcript": "ENST00000915105.1",
"protein_id": "ENSP00000585164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1475,
"cds_start": null,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915105.1"
},
{
"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": 43,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+69delT",
"hgvs_p": null,
"transcript": "NM_033084.6",
"protein_id": "NP_149075.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1471,
"cds_start": null,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033084.6"
},
{
"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": 42,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+69delT",
"hgvs_p": null,
"transcript": "NM_001374254.1",
"protein_id": "NP_001361183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1458,
"cds_start": null,
"cds_end": null,
"cds_length": 4377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374254.1"
},
{
"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": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+69delT",
"hgvs_p": null,
"transcript": "NM_001319984.2",
"protein_id": "NP_001306913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1451,
"cds_start": null,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319984.2"
},
{
"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": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+67delT",
"hgvs_p": null,
"transcript": "ENST00000915101.1",
"protein_id": "ENSP00000585160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1451,
"cds_start": null,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915101.1"
},
{
"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": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1944+67delT",
"hgvs_p": null,
"transcript": "ENST00000915096.1",
"protein_id": "ENSP00000585155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1450,
"cds_start": null,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915096.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+67delT",
"hgvs_p": null,
"transcript": "ENST00000915113.1",
"protein_id": "ENSP00000585172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1448,
"cds_start": null,
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"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915113.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+67delT",
"hgvs_p": null,
"transcript": "ENST00000915095.1",
"protein_id": "ENSP00000585154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
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"cds_length": 4320,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000915095.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 43,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+67delT",
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"transcript": "ENST00000915104.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 43,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+67delT",
"hgvs_p": null,
"transcript": "ENST00000915106.1",
"protein_id": "ENSP00000585165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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": "ENST00000915106.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+67delT",
"hgvs_p": null,
"transcript": "ENST00000915108.1",
"protein_id": "ENSP00000585167.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000915108.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+67delT",
"hgvs_p": null,
"transcript": "ENST00000915110.1",
"protein_id": "ENSP00000585169.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1423,
"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": "ENST00000915110.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1836+69delT",
"hgvs_p": null,
"transcript": "NM_001374253.1",
"protein_id": "NP_001361182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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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": "NM_001374253.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 43,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+67delT",
"hgvs_p": null,
"transcript": "ENST00000915109.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 43,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
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"hgvs_c": "c.1836+67delT",
"hgvs_p": null,
"transcript": "ENST00000676013.1",
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"feature": "ENST00000676013.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 20,
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"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+67delT",
"hgvs_p": null,
"transcript": "ENST00000915115.1",
"protein_id": "ENSP00000585174.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915115.1"
},
{
"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": 43,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.1947+67delT",
"hgvs_p": null,
"transcript": "ENST00000915114.1",
"protein_id": "ENSP00000585173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1412,
"cds_start": null,
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"cds_length": 4239,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915114.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 20,
"intron_rank_end": null,
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"allele_count_reference_population": null,
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"computational_score_selected": null,
"computational_prediction_selected": null,
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": null,
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_033084.6",
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],
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}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}