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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: 2-161904794-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=161904794&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 161904794,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000446997.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1636T>G",
"hgvs_p": "p.Phe546Val",
"transcript": "NM_001178015.2",
"protein_id": "NP_001171486.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1636,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 5578,
"mane_select": "ENST00000446997.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1636T>G",
"hgvs_p": "p.Phe546Val",
"transcript": "ENST00000446997.6",
"protein_id": "ENSP00000393066.1",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1636,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 5578,
"mane_select": "NM_001178015.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1546T>G",
"hgvs_p": "p.Phe516Val",
"transcript": "ENST00000415876.6",
"protein_id": "ENSP00000395797.2",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 1088,
"cds_start": 1546,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 5578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1636T>G",
"hgvs_p": "p.Phe546Val",
"transcript": "NM_001354440.2",
"protein_id": "NP_001341369.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1136,
"cds_start": 1636,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1672T>G",
"hgvs_p": "p.Phe558Val",
"transcript": "NM_001354460.2",
"protein_id": "NP_001341389.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 1130,
"cds_start": 1672,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1672T>G",
"hgvs_p": "p.Phe558Val",
"transcript": "NM_001354461.2",
"protein_id": "NP_001341390.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 1130,
"cds_start": 1672,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 5848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1669T>G",
"hgvs_p": "p.Phe557Val",
"transcript": "NM_001354441.2",
"protein_id": "NP_001341370.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1669,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1669T>G",
"hgvs_p": "p.Phe557Val",
"transcript": "NM_001354442.2",
"protein_id": "NP_001341371.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 1127,
"cds_start": 1669,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1582T>G",
"hgvs_p": "p.Phe528Val",
"transcript": "NM_001354443.2",
"protein_id": "NP_001341372.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1582,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 5583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1633T>G",
"hgvs_p": "p.Phe545Val",
"transcript": "NM_001354444.2",
"protein_id": "NP_001341373.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 1117,
"cds_start": 1633,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 5575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1579T>G",
"hgvs_p": "p.Phe527Val",
"transcript": "NM_001354445.2",
"protein_id": "NP_001341374.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 1117,
"cds_start": 1579,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 5585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1546T>G",
"hgvs_p": "p.Phe516Val",
"transcript": "NM_001354446.2",
"protein_id": "NP_001341375.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1546,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 5449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1546T>G",
"hgvs_p": "p.Phe516Val",
"transcript": "ENST00000272716.9",
"protein_id": "ENSP00000272716.5",
"transcript_support_level": 5,
"aa_start": 516,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1546,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1582T>G",
"hgvs_p": "p.Phe528Val",
"transcript": "NM_001354447.2",
"protein_id": "NP_001341376.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1582,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 5758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1579T>G",
"hgvs_p": "p.Phe527Val",
"transcript": "NM_001178016.2",
"protein_id": "NP_001171487.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1579,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1579T>G",
"hgvs_p": "p.Phe527Val",
"transcript": "ENST00000375514.9",
"protein_id": "ENSP00000364664.5",
"transcript_support_level": 2,
"aa_start": 527,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1579,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 5710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1576T>G",
"hgvs_p": "p.Phe526Val",
"transcript": "NM_001354448.2",
"protein_id": "NP_001341377.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 1098,
"cds_start": 1576,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 5621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1546T>G",
"hgvs_p": "p.Phe516Val",
"transcript": "NM_022058.4",
"protein_id": "NP_071341.2",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 1088,
"cds_start": 1546,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1543T>G",
"hgvs_p": "p.Phe515Val",
"transcript": "NM_001354449.2",
"protein_id": "NP_001341378.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 1087,
"cds_start": 1543,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 5485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1546T>G",
"hgvs_p": "p.Phe516Val",
"transcript": "NM_001354450.2",
"protein_id": "NP_001341379.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1546,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1543T>G",
"hgvs_p": "p.Phe515Val",
"transcript": "NM_001354451.2",
"protein_id": "NP_001341380.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 1085,
"cds_start": 1543,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 5463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.1636T>G",
"hgvs_p": "p.Phe546Val",
"transcript": "ENST00000421911.1",
"protein_id": "ENSP00000404486.1",
"transcript_support_level": 5,
"aa_start": 546,
"aa_end": null,
"aa_length": 1054,
"cds_start": 1636,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
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"phylop100way_prediction": "Pathogenic",
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{
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"verdict": "Likely_benign",
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{
"score": 0,
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"transcript": "XR_001739757.2",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}