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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: 16-10922484-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10922484&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 10922484,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286402.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3311C>T",
"hgvs_p": "p.Thr1104Met",
"transcript": "NM_000246.4",
"protein_id": "NP_000237.2",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3311,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324288.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000246.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3311C>T",
"hgvs_p": "p.Thr1104Met",
"transcript": "ENST00000324288.14",
"protein_id": "ENSP00000316328.8",
"transcript_support_level": 1,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3311,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000246.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324288.14"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Thr520Met",
"transcript": "ENST00000381835.9",
"protein_id": "ENSP00000371257.5",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 546,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381835.9"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3413C>T",
"hgvs_p": "p.Thr1138Met",
"transcript": "ENST00000886127.1",
"protein_id": "ENSP00000556186.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3413,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886127.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3314C>T",
"hgvs_p": "p.Thr1105Met",
"transcript": "NM_001286402.1",
"protein_id": "NP_001273331.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3314,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286402.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3314C>T",
"hgvs_p": "p.Thr1105Met",
"transcript": "NM_001379332.1",
"protein_id": "NP_001366261.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3314,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379332.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3314C>T",
"hgvs_p": "p.Thr1105Met",
"transcript": "ENST00000618327.4",
"protein_id": "ENSP00000485010.1",
"transcript_support_level": 2,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3314,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618327.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3311C>T",
"hgvs_p": "p.Thr1104Met",
"transcript": "NM_001379333.1",
"protein_id": "NP_001366262.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3311,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379333.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3311C>T",
"hgvs_p": "p.Thr1104Met",
"transcript": "ENST00000886125.1",
"protein_id": "ENSP00000556184.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3311,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886125.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3311C>T",
"hgvs_p": "p.Thr1104Met",
"transcript": "ENST00000886126.1",
"protein_id": "ENSP00000556185.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3311,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886126.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3242C>T",
"hgvs_p": "p.Thr1081Met",
"transcript": "NM_001379334.1",
"protein_id": "NP_001366263.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3242,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379334.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3218C>T",
"hgvs_p": "p.Thr1073Met",
"transcript": "ENST00000886128.1",
"protein_id": "ENSP00000556187.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3218,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886128.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3167C>T",
"hgvs_p": "p.Thr1056Met",
"transcript": "NM_001379330.1",
"protein_id": "NP_001366259.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1082,
"cds_start": 3167,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379330.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3167C>T",
"hgvs_p": "p.Thr1056Met",
"transcript": "ENST00000886124.1",
"protein_id": "ENSP00000556183.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1082,
"cds_start": 3167,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886124.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3167C>T",
"hgvs_p": "p.Thr1056Met",
"transcript": "ENST00000969830.1",
"protein_id": "ENSP00000639889.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1082,
"cds_start": 3167,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969830.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3164C>T",
"hgvs_p": "p.Thr1055Met",
"transcript": "NM_001379331.1",
"protein_id": "NP_001366260.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1081,
"cds_start": 3164,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379331.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2822C>T",
"hgvs_p": "p.Thr941Met",
"transcript": "ENST00000886129.1",
"protein_id": "ENSP00000556188.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 967,
"cds_start": 2822,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886129.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Thr520Met",
"transcript": "NM_001286403.2",
"protein_id": "NP_001273332.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 546,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286403.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Thr54Met",
"transcript": "ENST00000646979.1",
"protein_id": "ENSP00000496240.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 80,
"cds_start": 161,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646979.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3608C>T",
"hgvs_p": "p.Thr1203Met",
"transcript": "XM_006720880.4",
"protein_id": "XP_006720943.2",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3608,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720880.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3608C>T",
"hgvs_p": "p.Thr1203Met",
"transcript": "XM_011522484.4",
"protein_id": "XP_011520786.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3608,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522484.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3608C>T",
"hgvs_p": "p.Thr1203Met",
"transcript": "XM_011522485.3",
"protein_id": "XP_011520787.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3608,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
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"splice_source_selected": "max_spliceai",
"revel_score": 0.251,
"revel_prediction": "Benign",
"alphamissense_score": 0.1093,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.808,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286402.1",
"gene_symbol": "CIITA",
"hgnc_id": 7067,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3314C>T",
"hgvs_p": "p.Thr1105Met"
}
],
"clinvar_disease": "MHC class II deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "MHC class II deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}