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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: 7-128758947-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128758947&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128758947,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001199671.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "NM_001219.5",
"protein_id": "NP_001210.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000249364.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001219.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000249364.9",
"protein_id": "ENSP00000249364.4",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001219.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000249364.9"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.516C>G",
"hgvs_p": "p.Asp172Glu",
"transcript": "ENST00000479257.5",
"protein_id": "ENSP00000420381.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 323,
"cds_start": 516,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479257.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.516C>G",
"hgvs_p": "p.Asp172Glu",
"transcript": "ENST00000542996.7",
"protein_id": "ENSP00000438248.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 323,
"cds_start": 516,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542996.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000449187.7",
"protein_id": "ENSP00000408838.2",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449187.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000535011.6",
"protein_id": "ENSP00000442110.1",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 224,
"cds_start": 492,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535011.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.675C>G",
"hgvs_p": "p.Asp225Glu",
"transcript": "ENST00000955247.1",
"protein_id": "ENSP00000625306.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 376,
"cds_start": 675,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955247.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.516C>G",
"hgvs_p": "p.Asp172Glu",
"transcript": "NM_001199671.2",
"protein_id": "NP_001186600.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 323,
"cds_start": 516,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199671.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.516C>G",
"hgvs_p": "p.Asp172Glu",
"transcript": "NM_001199672.2",
"protein_id": "NP_001186601.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 323,
"cds_start": 516,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199672.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "NM_001130674.3",
"protein_id": "NP_001124146.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130674.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000860033.1",
"protein_id": "ENSP00000530092.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860033.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000860034.1",
"protein_id": "ENSP00000530093.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860034.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000860035.1",
"protein_id": "ENSP00000530094.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860035.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000860038.1",
"protein_id": "ENSP00000530097.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860038.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000860039.1",
"protein_id": "ENSP00000530098.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860039.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000860040.1",
"protein_id": "ENSP00000530099.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860040.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000860041.1",
"protein_id": "ENSP00000530100.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860041.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000918180.1",
"protein_id": "ENSP00000588239.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918180.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000918181.1",
"protein_id": "ENSP00000588240.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918181.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000918182.1",
"protein_id": "ENSP00000588241.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918182.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000918183.1",
"protein_id": "ENSP00000588242.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918183.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALU",
"gene_hgnc_id": 1458,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"transcript": "ENST00000918184.1",
"protein_id": "ENSP00000588243.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 492,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918184.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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{
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{
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],
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],
"gene_symbol": "CALU",
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"dbsnp": "rs775947573",
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"computational_score_selected": 0.9262619614601135,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.922,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.788,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199671.2",
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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
}