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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: 12-109090064-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109090064&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109090064,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001001655.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "NM_001145374.2",
"protein_id": "NP_001138846.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429722.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145374.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "ENST00000429722.3",
"protein_id": "ENSP00000398181.1",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145374.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429722.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "ENST00000343075.7",
"protein_id": "ENSP00000343021.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343075.7"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.281-1552C>T",
"hgvs_p": null,
"transcript": "ENST00000440112.2",
"protein_id": "ENSP00000399820.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440112.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "NM_001001655.3",
"protein_id": "NP_001001655.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001655.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "NM_001145375.2",
"protein_id": "NP_001138847.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145375.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "ENST00000861370.1",
"protein_id": "ENSP00000531429.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861370.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "ENST00000861371.1",
"protein_id": "ENSP00000531430.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861371.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "ENST00000861372.1",
"protein_id": "ENSP00000531431.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861372.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "ENST00000861373.1",
"protein_id": "ENSP00000531432.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861373.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "ENST00000861374.1",
"protein_id": "ENSP00000531433.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861374.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "ENST00000931219.1",
"protein_id": "ENSP00000601278.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931219.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "ENST00000931220.1",
"protein_id": "ENSP00000601279.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931220.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "ENST00000931221.1",
"protein_id": "ENSP00000601280.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931221.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "ENST00000931222.1",
"protein_id": "ENSP00000601281.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931222.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "ENST00000950638.1",
"protein_id": "ENSP00000620697.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 261,
"cds_start": 424,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950638.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "ENST00000861375.1",
"protein_id": "ENSP00000531434.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 260,
"cds_start": 421,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861375.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "ENST00000950637.1",
"protein_id": "ENSP00000620696.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 260,
"cds_start": 421,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950637.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110Trp",
"transcript": "ENST00000931223.1",
"protein_id": "ENSP00000601282.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 229,
"cds_start": 328,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931223.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110Trp",
"transcript": "ENST00000931224.1",
"protein_id": "ENSP00000601283.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 229,
"cds_start": 328,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931224.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Arg110Trp",
"transcript": "ENST00000950636.1",
"protein_id": "ENSP00000620695.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 229,
"cds_start": 328,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950636.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALKBH2",
"gene_hgnc_id": 32487,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Trp",
"transcript": "ENST00000536242.1",
"protein_id": "ENSP00000443042.1",
"transcript_support_level": 3,
"aa_start": 142,
"aa_end": null,
"aa_length": 149,
"cds_start": 424,
"cds_end": null,
"cds_length": 451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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],
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],
"gene_symbol": "ALKBH2",
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"dbsnp": "rs371845082",
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.8525885939598083,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.286,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.626,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001001655.3",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}