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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: 7-2432902-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2432902&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2432902,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018641.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "NM_018641.5",
"protein_id": "NP_061111.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000618655.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018641.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000618655.2",
"protein_id": "ENSP00000481912.1",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018641.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618655.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000258711.7",
"protein_id": "ENSP00000258711.6",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258711.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "NM_001243794.2",
"protein_id": "NP_001230723.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243794.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "NM_001243795.2",
"protein_id": "NP_001230724.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243795.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000852327.1",
"protein_id": "ENSP00000522386.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852327.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000852328.1",
"protein_id": "ENSP00000522387.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852328.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000852329.1",
"protein_id": "ENSP00000522388.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852329.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000852330.1",
"protein_id": "ENSP00000522389.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852330.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000852331.1",
"protein_id": "ENSP00000522390.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852331.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000852332.1",
"protein_id": "ENSP00000522391.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852332.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000852333.1",
"protein_id": "ENSP00000522392.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852333.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000852334.1",
"protein_id": "ENSP00000522393.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852334.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000852335.1",
"protein_id": "ENSP00000522394.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852335.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000852336.1",
"protein_id": "ENSP00000522395.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852336.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000941705.1",
"protein_id": "ENSP00000611764.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941705.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000941706.1",
"protein_id": "ENSP00000611765.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941706.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000432336.1",
"protein_id": "ENSP00000411207.1",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 244,
"cds_start": 263,
"cds_end": null,
"cds_length": 736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432336.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Thr137Met",
"transcript": "XM_047420571.1",
"protein_id": "XP_047276527.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 463,
"cds_start": 410,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420571.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "XM_011515443.3",
"protein_id": "XP_011513745.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515443.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "XM_011515444.3",
"protein_id": "XP_011513746.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 414,
"cds_start": 263,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515444.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHST12",
"gene_hgnc_id": 17423,
"hgvs_c": "n.340C>T",
"hgvs_p": null,
"transcript": "XR_007060065.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007060065.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.103,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018641.5",
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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
}