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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: 11-35180326-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=35180326&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 35180326,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001440324.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "NM_000610.4",
"protein_id": "NP_000601.3",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 742,
"cds_start": 286,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428726.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000610.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "ENST00000428726.8",
"protein_id": "ENSP00000398632.2",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 742,
"cds_start": 286,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000610.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428726.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "ENST00000415148.6",
"protein_id": "ENSP00000389830.2",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 699,
"cds_start": 286,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415148.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "ENST00000433892.6",
"protein_id": "ENSP00000392331.2",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 493,
"cds_start": 286,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433892.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "ENST00000434472.6",
"protein_id": "ENSP00000404447.2",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 429,
"cds_start": 286,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434472.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "ENST00000263398.11",
"protein_id": "ENSP00000263398.6",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 361,
"cds_start": 286,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263398.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "ENST00000352818.8",
"protein_id": "ENSP00000309732.6",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 340,
"cds_start": 286,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352818.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000442151.6",
"protein_id": "ENSP00000398099.2",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 293,
"cds_start": 283,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442151.6"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.233+3586A>G",
"hgvs_p": null,
"transcript": "ENST00000278386.10",
"protein_id": "ENSP00000278386.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": null,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278386.10"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "n.233+3586A>G",
"hgvs_p": null,
"transcript": "ENST00000425428.6",
"protein_id": "ENSP00000395953.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000425428.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "NM_001440324.1",
"protein_id": "NP_001427253.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 743,
"cds_start": 286,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440324.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "ENST00000904013.1",
"protein_id": "ENSP00000574072.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 743,
"cds_start": 286,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904013.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "ENST00000969346.1",
"protein_id": "ENSP00000639405.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 742,
"cds_start": 286,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969346.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "NM_001440325.1",
"protein_id": "NP_001427254.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 741,
"cds_start": 286,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440325.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "ENST00000969353.1",
"protein_id": "ENSP00000639412.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 741,
"cds_start": 286,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969353.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "ENST00000969372.1",
"protein_id": "ENSP00000639431.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 736,
"cds_start": 286,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969372.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "NM_001440326.1",
"protein_id": "NP_001427255.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 712,
"cds_start": 286,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440326.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "NM_001440327.1",
"protein_id": "NP_001427256.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 700,
"cds_start": 286,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440327.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "ENST00000904018.1",
"protein_id": "ENSP00000574077.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 700,
"cds_start": 286,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904018.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "NM_001001389.2",
"protein_id": "NP_001001389.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 699,
"cds_start": 286,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001389.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "NM_001440328.1",
"protein_id": "NP_001427257.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 699,
"cds_start": 286,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440328.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD44",
"gene_hgnc_id": 1681,
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Ile96Val",
"transcript": "ENST00000904022.1",
"protein_id": "ENSP00000574081.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 699,
"cds_start": 286,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904022.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.884,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001440324.1",
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"effects": [
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],
"inheritance_mode": "BG",
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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
}