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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: X-135998860-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=135998860&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC9A6",
"hgnc_id": 11079,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Ile229Val",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001438742.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0577,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Christianson syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11040133237838745,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 679,
"aa_ref": "I",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": 628,
"cds_end": null,
"cds_length": 2040,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001379110.1",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000630721.3",
"protein_coding": true,
"protein_id": "NP_001366039.1",
"strand": true,
"transcript": "NM_001379110.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 679,
"aa_ref": "I",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": 628,
"cds_end": null,
"cds_length": 2040,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000630721.3",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001379110.1",
"protein_coding": true,
"protein_id": "ENSP00000487486.2",
"strand": true,
"transcript": "ENST00000630721.3",
"transcript_support_level": 4
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 701,
"aa_ref": "I",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4711,
"cdna_start": 753,
"cds_end": null,
"cds_length": 2106,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000370695.8",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Ile229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359729.4",
"strand": true,
"transcript": "ENST00000370695.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 669,
"aa_ref": "I",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4631,
"cdna_start": 665,
"cds_end": null,
"cds_length": 2010,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000370698.7",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.589A>G",
"hgvs_p": "p.Ile197Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359732.3",
"strand": true,
"transcript": "ENST00000370698.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 649,
"aa_ref": "I",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4755,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1950,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000370701.6",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359735.1",
"strand": true,
"transcript": "ENST00000370701.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 731,
"aa_ref": "I",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4809,
"cdna_start": 753,
"cds_end": null,
"cds_length": 2196,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438742.1",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Ile229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425671.1",
"strand": true,
"transcript": "NM_001438742.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 731,
"aa_ref": "I",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4809,
"cdna_start": 753,
"cds_end": null,
"cds_length": 2196,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000678163.1",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Ile229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502845.1",
"strand": true,
"transcript": "ENST00000678163.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 701,
"aa_ref": "I",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4719,
"cdna_start": 753,
"cds_end": null,
"cds_length": 2106,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001042537.2",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Ile229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036002.1",
"strand": true,
"transcript": "NM_001042537.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 669,
"aa_ref": "I",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4623,
"cdna_start": 657,
"cds_end": null,
"cds_length": 2010,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_006359.3",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.589A>G",
"hgvs_p": "p.Ile197Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006350.1",
"strand": true,
"transcript": "NM_006359.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 649,
"aa_ref": "I",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4594,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1950,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001177651.2",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171122.1",
"strand": true,
"transcript": "NM_001177651.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 649,
"aa_ref": "I",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1950,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001400909.1",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387838.1",
"strand": true,
"transcript": "NM_001400909.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 649,
"aa_ref": "I",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 773,
"cds_end": null,
"cds_length": 1950,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001400910.1",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387839.1",
"strand": true,
"transcript": "NM_001400910.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4621,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1950,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001400911.1",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387840.1",
"strand": true,
"transcript": "NM_001400911.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 649,
"aa_ref": "I",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4589,
"cdna_start": 623,
"cds_end": null,
"cds_length": 1950,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001400912.1",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387841.1",
"strand": true,
"transcript": "NM_001400912.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4697,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1950,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000636092.1",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490406.1",
"strand": true,
"transcript": "ENST00000636092.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
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"aa_length": 649,
"aa_ref": "I",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4867,
"cdna_start": 903,
"cds_end": null,
"cds_length": 1950,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000636347.1",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490648.1",
"strand": true,
"transcript": "ENST00000636347.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
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"aa_length": 649,
"aa_ref": "I",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4691,
"cdna_start": 727,
"cds_end": null,
"cds_length": 1950,
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"consequences": [
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],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000637234.1",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490527.1",
"strand": true,
"transcript": "ENST00000637234.1",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000637581.1",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490731.1",
"strand": true,
"transcript": "ENST00000637581.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
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"aa_length": 617,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1854,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001330652.2",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.433A>G",
"hgvs_p": "p.Ile145Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317581.1",
"strand": true,
"transcript": "NM_001330652.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 617,
"aa_ref": "I",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4498,
"cdna_start": 532,
"cds_end": null,
"cds_length": 1854,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001400913.1",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
"hgvs_c": "c.433A>G",
"hgvs_p": "p.Ile145Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387842.1",
"strand": true,
"transcript": "NM_001400913.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 617,
"aa_ref": "I",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4858,
"cdna_start": 914,
"cds_end": null,
"cds_length": 1854,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000637195.1",
"gene_hgnc_id": 11079,
"gene_symbol": "SLC9A6",
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