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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: 11-120440193-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=120440193&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 120440193,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015313.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.1064A>T",
"hgvs_p": "p.Asp355Val",
"transcript": "NM_015313.3",
"protein_id": "NP_056128.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1544,
"cds_start": 1064,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 10326,
"mane_select": "ENST00000397843.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015313.3"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.1064A>T",
"hgvs_p": "p.Asp355Val",
"transcript": "ENST00000397843.7",
"protein_id": "ENSP00000380942.2",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 1544,
"cds_start": 1064,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 10326,
"mane_select": "NM_015313.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397843.7"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000532993.5",
"protein_id": "ENSP00000432984.1",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 1441,
"cds_start": 755,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 8753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532993.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.1007A>T",
"hgvs_p": "p.Asp336Val",
"transcript": "NM_001198665.2",
"protein_id": "NP_001185594.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 1525,
"cds_start": 1007,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 10269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198665.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.1007A>T",
"hgvs_p": "p.Asp336Val",
"transcript": "ENST00000356641.7",
"protein_id": "ENSP00000349056.3",
"transcript_support_level": 5,
"aa_start": 336,
"aa_end": null,
"aa_length": 1525,
"cds_start": 1007,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 6891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356641.7"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.992A>T",
"hgvs_p": "p.Asp331Val",
"transcript": "ENST00000884479.1",
"protein_id": "ENSP00000554538.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 1520,
"cds_start": 992,
"cds_end": null,
"cds_length": 4563,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 5515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884479.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.1064A>T",
"hgvs_p": "p.Asp355Val",
"transcript": "ENST00000884477.1",
"protein_id": "ENSP00000554536.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1518,
"cds_start": 1064,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 5789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884477.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.1007A>T",
"hgvs_p": "p.Asp336Val",
"transcript": "ENST00000884478.1",
"protein_id": "ENSP00000554537.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 1514,
"cds_start": 1007,
"cds_end": null,
"cds_length": 4545,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884478.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.944A>T",
"hgvs_p": "p.Asp315Val",
"transcript": "ENST00000884476.1",
"protein_id": "ENSP00000554535.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 1504,
"cds_start": 944,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 5825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884476.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.932A>T",
"hgvs_p": "p.Asp311Val",
"transcript": "ENST00000884475.1",
"protein_id": "ENSP00000554534.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1500,
"cds_start": 932,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 6926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884475.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asp296Val",
"transcript": "ENST00000884473.1",
"protein_id": "ENSP00000554532.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 1485,
"cds_start": 887,
"cds_end": null,
"cds_length": 4458,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 9413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884473.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.1007A>T",
"hgvs_p": "p.Asp336Val",
"transcript": "ENST00000884474.1",
"protein_id": "ENSP00000554533.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 1447,
"cds_start": 1007,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 9126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884474.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "NM_001301084.2",
"protein_id": "NP_001288013.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 1441,
"cds_start": 755,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 9623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301084.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.989A>T",
"hgvs_p": "p.Asp330Val",
"transcript": "XM_006718805.4",
"protein_id": "XP_006718868.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 1519,
"cds_start": 989,
"cds_end": null,
"cds_length": 4560,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 10251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718805.4"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.944A>T",
"hgvs_p": "p.Asp315Val",
"transcript": "XM_047426659.1",
"protein_id": "XP_047282615.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 1504,
"cds_start": 944,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 10206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426659.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.932A>T",
"hgvs_p": "p.Asp311Val",
"transcript": "XM_047426660.1",
"protein_id": "XP_047282616.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1500,
"cds_start": 932,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 10194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426660.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asp296Val",
"transcript": "XM_017017420.2",
"protein_id": "XP_016872909.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 1485,
"cds_start": 887,
"cds_end": null,
"cds_length": 4458,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 10149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017420.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.869A>T",
"hgvs_p": "p.Asp290Val",
"transcript": "XM_047426661.1",
"protein_id": "XP_047282617.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 1479,
"cds_start": 869,
"cds_end": null,
"cds_length": 4440,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 10131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426661.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Asp271Val",
"transcript": "XM_047426662.1",
"protein_id": "XP_047282618.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 1460,
"cds_start": 812,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 10074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426662.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "XM_011542720.3",
"protein_id": "XP_011541022.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 1441,
"cds_start": 755,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 9727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542720.3"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "XM_017017421.2",
"protein_id": "XP_016872910.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 1441,
"cds_start": 755,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 10111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017421.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "XM_047426663.1",
"protein_id": "XP_047282619.1",
"transcript_support_level": null,
"aa_start": 252,
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"allele_count_reference_population": 0,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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{
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],
"verdict": "Uncertain_significance",
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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
}