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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: 13-37045463-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=37045463&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 37045463,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001278480.2",
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-90T>C",
"hgvs_p": null,
"transcript": "NM_001014286.3",
"protein_id": "NP_001014308.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": null,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000350612.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014286.3"
},
{
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-90T>C",
"hgvs_p": null,
"transcript": "ENST00000350612.11",
"protein_id": "ENSP00000218894.10",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": null,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001014286.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350612.11"
},
{
"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": 25,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-90T>C",
"hgvs_p": null,
"transcript": "ENST00000475892.5",
"protein_id": "ENSP00000417510.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": null,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475892.5"
},
{
"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": 25,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-87T>C",
"hgvs_p": null,
"transcript": "ENST00000356185.7",
"protein_id": "ENSP00000348512.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 733,
"cds_start": null,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356185.7"
},
{
"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": 25,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-87T>C",
"hgvs_p": null,
"transcript": "ENST00000360252.8",
"protein_id": "ENSP00000353388.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 733,
"cds_start": null,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360252.8"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "n.304-1282T>C",
"hgvs_p": null,
"transcript": "ENST00000464572.5",
"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": "ENST00000464572.5"
},
{
"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": 25,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-90T>C",
"hgvs_p": null,
"transcript": "NM_001278480.2",
"protein_id": "NP_001265409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": null,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278480.2"
},
{
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-87T>C",
"hgvs_p": null,
"transcript": "ENST00000932742.1",
"protein_id": "ENSP00000602801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932742.1"
},
{
"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": 27,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-87T>C",
"hgvs_p": null,
"transcript": "ENST00000932744.1",
"protein_id": "ENSP00000602803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932744.1"
},
{
"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": 27,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-87T>C",
"hgvs_p": null,
"transcript": "ENST00000969161.1",
"protein_id": "ENSP00000639220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969161.1"
},
{
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-87T>C",
"hgvs_p": null,
"transcript": "ENST00000969163.1",
"protein_id": "ENSP00000639222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969163.1"
},
{
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-90T>C",
"hgvs_p": null,
"transcript": "ENST00000858402.1",
"protein_id": "ENSP00000528461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": null,
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"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858402.1"
},
{
"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": 27,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-90T>C",
"hgvs_p": null,
"transcript": "ENST00000858404.1",
"protein_id": "ENSP00000528463.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": null,
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"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858404.1"
},
{
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-90T>C",
"hgvs_p": null,
"transcript": "ENST00000858411.1",
"protein_id": "ENSP00000528470.1",
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858411.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-90T>C",
"hgvs_p": null,
"transcript": "ENST00000932737.1",
"protein_id": "ENSP00000602796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"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": "ENST00000932737.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-90T>C",
"hgvs_p": null,
"transcript": "ENST00000932739.1",
"protein_id": "ENSP00000602798.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932739.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-90T>C",
"hgvs_p": null,
"transcript": "ENST00000969162.1",
"protein_id": "ENSP00000639221.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 779,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969162.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.166-90T>C",
"hgvs_p": null,
"transcript": "ENST00000858413.1",
"protein_id": "ENSP00000528472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": null,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858413.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.130-87T>C",
"hgvs_p": null,
"transcript": "ENST00000858406.1",
"protein_id": "ENSP00000528465.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000858406.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.130-87T>C",
"hgvs_p": null,
"transcript": "ENST00000858409.1",
"protein_id": "ENSP00000528468.1",
"transcript_support_level": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000858409.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.130-87T>C",
"hgvs_p": null,
"transcript": "ENST00000932740.1",
"protein_id": "ENSP00000602799.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"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": "ENST00000932740.1"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SUPT20H",
"gene_hgnc_id": 20596,
"hgvs_c": "c.130-87T>C",
"hgvs_p": null,
"transcript": "ENST00000969158.1",
"protein_id": "ENSP00000639217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"cds_start": null,
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"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969158.1"
},
{
"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": 25,
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{
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{
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "NM_001278480.2",
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"effects": [
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}