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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: 11-120429773-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=120429773&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 120429773,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015313.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Ala242Val",
"transcript": "NM_015313.3",
"protein_id": "NP_056128.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 1544,
"cds_start": 725,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397843.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015313.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Ala242Val",
"transcript": "ENST00000397843.7",
"protein_id": "ENSP00000380942.2",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 1544,
"cds_start": 725,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015313.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397843.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Ala139Val",
"transcript": "ENST00000532993.5",
"protein_id": "ENSP00000432984.1",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 1441,
"cds_start": 416,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532993.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ala223Val",
"transcript": "NM_001198665.2",
"protein_id": "NP_001185594.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1525,
"cds_start": 668,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198665.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ala223Val",
"transcript": "ENST00000356641.7",
"protein_id": "ENSP00000349056.3",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 1525,
"cds_start": 668,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356641.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ala218Val",
"transcript": "ENST00000884479.1",
"protein_id": "ENSP00000554538.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 1520,
"cds_start": 653,
"cds_end": null,
"cds_length": 4563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884479.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Ala242Val",
"transcript": "ENST00000884477.1",
"protein_id": "ENSP00000554536.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 1518,
"cds_start": 725,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884477.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ala223Val",
"transcript": "ENST00000884478.1",
"protein_id": "ENSP00000554537.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1514,
"cds_start": 668,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884478.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ala223Val",
"transcript": "ENST00000884475.1",
"protein_id": "ENSP00000554534.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1500,
"cds_start": 668,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884475.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ala223Val",
"transcript": "ENST00000884474.1",
"protein_id": "ENSP00000554533.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1447,
"cds_start": 668,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884474.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Ala139Val",
"transcript": "NM_001301084.2",
"protein_id": "NP_001288013.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1441,
"cds_start": 416,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301084.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Ala242Val",
"transcript": "XM_006718805.4",
"protein_id": "XP_006718868.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 1519,
"cds_start": 725,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718805.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ala223Val",
"transcript": "XM_047426660.1",
"protein_id": "XP_047282616.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1500,
"cds_start": 668,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426660.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Ala139Val",
"transcript": "XM_011542720.3",
"protein_id": "XP_011541022.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1441,
"cds_start": 416,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542720.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Ala139Val",
"transcript": "XM_017017421.2",
"protein_id": "XP_016872910.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1441,
"cds_start": 416,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017421.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Ala139Val",
"transcript": "XM_047426663.1",
"protein_id": "XP_047282619.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1441,
"cds_start": 416,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426663.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Ala139Val",
"transcript": "XM_047426664.1",
"protein_id": "XP_047282620.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1441,
"cds_start": 416,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426664.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Ala139Val",
"transcript": "XM_047426665.1",
"protein_id": "XP_047282621.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1441,
"cds_start": 416,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426665.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Ala139Val",
"transcript": "XM_047426667.1",
"protein_id": "XP_047282623.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1416,
"cds_start": 416,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.663+256C>T",
"hgvs_p": null,
"transcript": "ENST00000884476.1",
"protein_id": "ENSP00000554535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1504,
"cds_start": null,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884476.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.606+256C>T",
"hgvs_p": null,
"transcript": "ENST00000884473.1",
"protein_id": "ENSP00000554532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1485,
"cds_start": null,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884473.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.663+256C>T",
"hgvs_p": null,
"transcript": "XM_047426659.1",
"protein_id": "XP_047282615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1504,
"cds_start": null,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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{
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],
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],
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"dbsnp": "rs1172255122",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.19736045598983765,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.599,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
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"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015313.3",
"gene_symbol": "ARHGEF12",
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"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Ala242Val"
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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
}