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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: 7-155298617-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=155298617&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 155298617,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001346590.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "NM_005542.6",
"protein_id": "NP_005533.2",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 277,
"cds_start": 332,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340368.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005542.6"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "ENST00000340368.9",
"protein_id": "ENSP00000344741.4",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 277,
"cds_start": 332,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005542.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340368.9"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "NM_001346590.2",
"protein_id": "NP_001333519.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 330,
"cds_start": 332,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346590.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "NM_001346591.2",
"protein_id": "NP_001333520.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 330,
"cds_start": 332,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346591.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "NM_001346594.2",
"protein_id": "NP_001333523.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 287,
"cds_start": 332,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346594.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "ENST00000885536.1",
"protein_id": "ENSP00000555595.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 287,
"cds_start": 332,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885536.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "ENST00000885537.1",
"protein_id": "ENSP00000555596.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 283,
"cds_start": 332,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885537.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "NM_001346592.2",
"protein_id": "NP_001333521.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 277,
"cds_start": 332,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346592.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "ENST00000885533.1",
"protein_id": "ENSP00000555592.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 277,
"cds_start": 332,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885533.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "ENST00000885534.1",
"protein_id": "ENSP00000555593.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 277,
"cds_start": 332,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885534.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "ENST00000885535.1",
"protein_id": "ENSP00000555594.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 277,
"cds_start": 332,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885535.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "ENST00000885538.1",
"protein_id": "ENSP00000555597.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 277,
"cds_start": 332,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885538.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "ENST00000885539.1",
"protein_id": "ENSP00000555598.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 277,
"cds_start": 332,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885539.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.56T>G",
"hgvs_p": "p.Val19Gly",
"transcript": "ENST00000476756.1",
"protein_id": "ENSP00000420198.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 238,
"cds_start": 56,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476756.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "NM_001346593.2",
"protein_id": "NP_001333522.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 164,
"cds_start": 332,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346593.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "NM_198337.4",
"protein_id": "NP_938151.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 164,
"cds_start": 332,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198337.4"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "ENST00000342407.5",
"protein_id": "ENSP00000344035.5",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 164,
"cds_start": 332,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342407.5"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Val111Gly",
"transcript": "ENST00000425172.1",
"protein_id": "ENSP00000414691.1",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 122,
"cds_start": 332,
"cds_end": null,
"cds_length": 370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425172.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.81+251T>G",
"hgvs_p": null,
"transcript": "NM_198336.4",
"protein_id": "NP_938150.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": null,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198336.4"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "INSIG1",
"gene_hgnc_id": 6083,
"hgvs_c": "c.81+251T>G",
"hgvs_p": null,
"transcript": "ENST00000344756.8",
"protein_id": "ENSP00000340010.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": null,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344756.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1-DT",
"gene_hgnc_id": 55155,
"hgvs_c": "n.426A>C",
"hgvs_p": null,
"transcript": "ENST00000743999.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000743999.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSIG1-DT",
"gene_hgnc_id": 55155,
"hgvs_c": "n.220A>C",
"hgvs_p": null,
"transcript": "ENST00000744000.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000744000.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
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{
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}