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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: 6-33723069-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33723069&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33723069,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_054111.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "NM_054111.5",
"protein_id": "NP_473452.2",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293756.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_054111.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000293756.5",
"protein_id": "ENSP00000293756.4",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_054111.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293756.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "NM_001142883.2",
"protein_id": "NP_001136355.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142883.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000451316.6",
"protein_id": "ENSP00000398861.1",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451316.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000885829.1",
"protein_id": "ENSP00000555888.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885829.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000885830.1",
"protein_id": "ENSP00000555889.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885830.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000885831.1",
"protein_id": "ENSP00000555890.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885831.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000885832.1",
"protein_id": "ENSP00000555891.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885832.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000885833.1",
"protein_id": "ENSP00000555892.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885833.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000885834.1",
"protein_id": "ENSP00000555893.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885834.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000959466.1",
"protein_id": "ENSP00000629525.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959466.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000959467.1",
"protein_id": "ENSP00000629526.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959467.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000959468.1",
"protein_id": "ENSP00000629527.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959468.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000959469.1",
"protein_id": "ENSP00000629528.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959469.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000959470.1",
"protein_id": "ENSP00000629529.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959470.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000959471.1",
"protein_id": "ENSP00000629530.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959471.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000959472.1",
"protein_id": "ENSP00000629531.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959472.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000959473.1",
"protein_id": "ENSP00000629532.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959473.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000959474.1",
"protein_id": "ENSP00000629533.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959474.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000959475.1",
"protein_id": "ENSP00000629534.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959475.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000959476.1",
"protein_id": "ENSP00000629535.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959476.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K3",
"gene_hgnc_id": 17269,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000959477.1",
"protein_id": "ENSP00000629536.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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],
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.228,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_054111.5",
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"effects": [
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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
}