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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: 12-112134848-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=112134848&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 112134848,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006700.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "NM_006700.3",
"protein_id": "NP_006691.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 582,
"cds_start": 158,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000412615.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006700.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000412615.7",
"protein_id": "ENSP00000396526.2",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 582,
"cds_start": 158,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006700.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412615.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "n.251C>G",
"hgvs_p": null,
"transcript": "ENST00000550051.5",
"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": "ENST00000550051.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000880370.1",
"protein_id": "ENSP00000550429.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 591,
"cds_start": 158,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880370.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "NM_001143906.2",
"protein_id": "NP_001137378.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 582,
"cds_start": 158,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143906.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000257604.9",
"protein_id": "ENSP00000257604.5",
"transcript_support_level": 2,
"aa_start": 53,
"aa_end": null,
"aa_length": 582,
"cds_start": 158,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257604.9"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000880364.1",
"protein_id": "ENSP00000550423.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 582,
"cds_start": 158,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880364.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000880366.1",
"protein_id": "ENSP00000550425.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 582,
"cds_start": 158,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880366.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000880368.1",
"protein_id": "ENSP00000550427.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 582,
"cds_start": 158,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880368.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000880371.1",
"protein_id": "ENSP00000550430.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 582,
"cds_start": 158,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880371.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000917400.1",
"protein_id": "ENSP00000587459.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 582,
"cds_start": 158,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917400.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000964247.1",
"protein_id": "ENSP00000634306.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 582,
"cds_start": 158,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964247.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000964251.1",
"protein_id": "ENSP00000634310.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 582,
"cds_start": 158,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964251.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000964253.1",
"protein_id": "ENSP00000634312.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 582,
"cds_start": 158,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964253.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000880367.1",
"protein_id": "ENSP00000550426.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 581,
"cds_start": 158,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880367.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000964252.1",
"protein_id": "ENSP00000634311.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 581,
"cds_start": 158,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964252.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000964254.1",
"protein_id": "ENSP00000634313.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 581,
"cds_start": 158,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964254.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000880365.1",
"protein_id": "ENSP00000550424.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 580,
"cds_start": 158,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880365.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000880369.1",
"protein_id": "ENSP00000550428.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 580,
"cds_start": 158,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880369.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000880372.1",
"protein_id": "ENSP00000550431.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 580,
"cds_start": 158,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880372.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000964250.1",
"protein_id": "ENSP00000634309.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 580,
"cds_start": 158,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964250.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAFD1",
"gene_hgnc_id": 24808,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Thr53Ser",
"transcript": "ENST00000917399.1",
"protein_id": "ENSP00000587458.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 547,
"cds_start": 158,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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{
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],
"verdict": "Likely_benign",
"transcript": "NM_006700.3",
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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
}