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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: 6-98926940-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=98926940&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 98926940,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_012160.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "NM_001278716.2",
"protein_id": "NP_001265645.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 621,
"cds_start": 49,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369244.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278716.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000369244.7",
"protein_id": "ENSP00000358247.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 621,
"cds_start": 49,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001278716.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369244.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000229971.2",
"protein_id": "ENSP00000229971.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 621,
"cds_start": 49,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229971.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000892543.1",
"protein_id": "ENSP00000562602.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 628,
"cds_start": 49,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892543.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000945102.1",
"protein_id": "ENSP00000615161.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 628,
"cds_start": 49,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945102.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "NM_012160.5",
"protein_id": "NP_036292.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 621,
"cds_start": 49,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012160.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000892540.1",
"protein_id": "ENSP00000562599.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 621,
"cds_start": 49,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892540.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000892542.1",
"protein_id": "ENSP00000562601.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 621,
"cds_start": 49,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892542.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000892550.1",
"protein_id": "ENSP00000562609.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 621,
"cds_start": 49,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892550.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000892554.1",
"protein_id": "ENSP00000562613.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 621,
"cds_start": 49,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892554.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000892560.1",
"protein_id": "ENSP00000562619.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 621,
"cds_start": 49,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892560.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000945098.1",
"protein_id": "ENSP00000615157.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 621,
"cds_start": 49,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945098.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000892552.1",
"protein_id": "ENSP00000562611.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 619,
"cds_start": 49,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892552.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000892546.1",
"protein_id": "ENSP00000562605.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 604,
"cds_start": 49,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892546.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000892556.1",
"protein_id": "ENSP00000562615.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 604,
"cds_start": 49,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892556.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000892539.1",
"protein_id": "ENSP00000562598.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 597,
"cds_start": 49,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892539.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000892541.1",
"protein_id": "ENSP00000562600.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 597,
"cds_start": 49,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892541.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000892548.1",
"protein_id": "ENSP00000562607.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 597,
"cds_start": 49,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892548.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000935939.1",
"protein_id": "ENSP00000605998.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 597,
"cds_start": 49,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935939.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000945100.1",
"protein_id": "ENSP00000615159.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 597,
"cds_start": 49,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945100.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000945101.1",
"protein_id": "ENSP00000615160.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 597,
"cds_start": 49,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945101.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.49A>T",
"hgvs_p": "p.Ile17Leu",
"transcript": "ENST00000892544.1",
"protein_id": "ENSP00000562603.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 531,
"cds_start": 49,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 3,
"criteria": [
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"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012160.5",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "Mitochondrial DNA depletion syndrome 13,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Mitochondrial DNA depletion syndrome 13|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}