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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: 16-10902076-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10902076&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 10902076,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000246.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Gly174Arg",
"transcript": "NM_000246.4",
"protein_id": "NP_000237.2",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 1130,
"cds_start": 520,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 16061,
"mane_select": "ENST00000324288.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Gly174Arg",
"transcript": "ENST00000324288.14",
"protein_id": "ENSP00000316328.8",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 1130,
"cds_start": 520,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 16061,
"mane_select": "NM_000246.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "n.520G>A",
"hgvs_p": null,
"transcript": "ENST00000537380.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.481+518G>A",
"hgvs_p": null,
"transcript": "ENST00000381835.9",
"protein_id": "ENSP00000371257.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 546,
"cds_start": -4,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "n.599+518G>A",
"hgvs_p": null,
"transcript": "ENST00000573309.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001286402.1",
"protein_id": "NP_001273331.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1131,
"cds_start": 523,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001379332.1",
"protein_id": "NP_001366261.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1131,
"cds_start": 523,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "ENST00000618327.4",
"protein_id": "ENSP00000485010.1",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 1131,
"cds_start": 523,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Gly174Arg",
"transcript": "NM_001379333.1",
"protein_id": "NP_001366262.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 1130,
"cds_start": 520,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 4823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Arg",
"transcript": "NM_001379334.1",
"protein_id": "NP_001366263.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1107,
"cds_start": 451,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000637439.1",
"protein_id": "ENSP00000489907.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 259,
"cds_start": 754,
"cds_end": null,
"cds_length": 782,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Gly150Arg",
"transcript": "ENST00000576601.1",
"protein_id": "ENSP00000459608.1",
"transcript_support_level": 4,
"aa_start": 150,
"aa_end": null,
"aa_length": 176,
"cds_start": 448,
"cds_end": null,
"cds_length": 532,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Gly273Arg",
"transcript": "XM_006720880.4",
"protein_id": "XP_006720943.2",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1229,
"cds_start": 817,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 5012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Gly273Arg",
"transcript": "XM_011522484.4",
"protein_id": "XP_011520786.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1229,
"cds_start": 817,
"cds_end": null,
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"cdna_start": 838,
"cdna_end": null,
"cdna_length": 16250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Gly273Arg",
"transcript": "XM_011522485.3",
"protein_id": "XP_011520787.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1229,
"cds_start": 817,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 5569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Gly273Arg",
"transcript": "XM_011522486.3",
"protein_id": "XP_011520788.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1201,
"cds_start": 817,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 838,
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"cdna_length": 3627,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Gly273Arg",
"transcript": "XM_011522491.3",
"protein_id": "XP_011520793.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1140,
"cds_start": 817,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "XM_047434120.1",
"protein_id": "XP_047290076.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1131,
"cds_start": 523,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Gly174Arg",
"transcript": "XM_047434122.1",
"protein_id": "XP_047290078.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 1130,
"cds_start": 520,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 5384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Arg",
"transcript": "XM_047434116.1",
"protein_id": "XP_047290072.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1107,
"cds_start": 451,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 15959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Arg",
"transcript": "XM_047434117.1",
"protein_id": "XP_047290073.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1107,
"cds_start": 451,
"cds_end": null,
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"cdna_start": 547,
"cdna_end": null,
"cdna_length": 5278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Arg",
"transcript": "XM_047434123.1",
"protein_id": "XP_047290079.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1107,
"cds_start": 451,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 15997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Gly150Arg",
"transcript": "XM_011522490.3",
"protein_id": "XP_011520792.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 1106,
"cds_start": 448,
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.714,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000246.4",
"gene_symbol": "CIITA",
"hgnc_id": 7067,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Gly174Arg"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000831791.1",
"gene_symbol": "ENSG00000308110",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.78-2438C>T",
"hgvs_p": null
}
],
"clinvar_disease": "MHC class II deficiency",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "MHC class II deficiency",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}