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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: 2-32197743-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=32197743&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 32197743,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001193513.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.582C>A",
"hgvs_p": "p.Phe194Leu",
"transcript": "NM_017964.5",
"protein_id": "NP_060434.2",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 461,
"cds_start": 582,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282587.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017964.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.582C>A",
"hgvs_p": "p.Phe194Leu",
"transcript": "ENST00000282587.9",
"protein_id": "ENSP00000282587.5",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 461,
"cds_start": 582,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017964.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282587.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.702C>A",
"hgvs_p": "p.Phe234Leu",
"transcript": "ENST00000379343.6",
"protein_id": "ENSP00000368648.2",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 501,
"cds_start": 702,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379343.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.582C>A",
"hgvs_p": "p.Phe194Leu",
"transcript": "ENST00000435660.5",
"protein_id": "ENSP00000399005.1",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 438,
"cds_start": 582,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435660.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.360C>A",
"hgvs_p": "p.Phe120Leu",
"transcript": "ENST00000406369.2",
"protein_id": "ENSP00000384041.1",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 387,
"cds_start": 360,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406369.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.702C>A",
"hgvs_p": "p.Phe234Leu",
"transcript": "NM_001193513.3",
"protein_id": "NP_001180442.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 501,
"cds_start": 702,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193513.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.636C>A",
"hgvs_p": "p.Phe212Leu",
"transcript": "ENST00000866171.1",
"protein_id": "ENSP00000536230.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 479,
"cds_start": 636,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866171.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.657C>A",
"hgvs_p": "p.Phe219Leu",
"transcript": "ENST00000954367.1",
"protein_id": "ENSP00000624426.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 447,
"cds_start": 657,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954367.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.582C>A",
"hgvs_p": "p.Phe194Leu",
"transcript": "ENST00000866170.1",
"protein_id": "ENSP00000536229.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 445,
"cds_start": 582,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866170.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.516C>A",
"hgvs_p": "p.Phe172Leu",
"transcript": "ENST00000911305.1",
"protein_id": "ENSP00000581364.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 439,
"cds_start": 516,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911305.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.582C>A",
"hgvs_p": "p.Phe194Leu",
"transcript": "NM_001193514.3",
"protein_id": "NP_001180443.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 438,
"cds_start": 582,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193514.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.495C>A",
"hgvs_p": "p.Phe165Leu",
"transcript": "NM_001193515.3",
"protein_id": "NP_001180444.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 432,
"cds_start": 495,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193515.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.495C>A",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000357055.7",
"protein_id": "ENSP00000349563.4",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 432,
"cds_start": 495,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357055.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.582C>A",
"hgvs_p": "p.Phe194Leu",
"transcript": "ENST00000911306.1",
"protein_id": "ENSP00000581365.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 422,
"cds_start": 582,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911306.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.516C>A",
"hgvs_p": "p.Phe172Leu",
"transcript": "ENST00000911307.1",
"protein_id": "ENSP00000581366.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 416,
"cds_start": 516,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911307.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.435C>A",
"hgvs_p": "p.Phe145Leu",
"transcript": "NM_001330479.2",
"protein_id": "NP_001317408.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 412,
"cds_start": 435,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330479.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.360C>A",
"hgvs_p": "p.Phe120Leu",
"transcript": "NM_001330476.2",
"protein_id": "NP_001317405.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 387,
"cds_start": 360,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330476.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.495C>A",
"hgvs_p": "p.Phe165Leu",
"transcript": "ENST00000440718.5",
"protein_id": "ENSP00000393946.1",
"transcript_support_level": 4,
"aa_start": 165,
"aa_end": null,
"aa_length": 177,
"cds_start": 495,
"cds_end": null,
"cds_length": 536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440718.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.702C>A",
"hgvs_p": "p.Phe234Leu",
"transcript": "XM_011532959.4",
"protein_id": "XP_011531261.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 478,
"cds_start": 702,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532959.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.555C>A",
"hgvs_p": "p.Phe185Leu",
"transcript": "XM_047444944.1",
"protein_id": "XP_047300900.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 452,
"cds_start": 555,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444944.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.360C>A",
"hgvs_p": "p.Phe120Leu",
"transcript": "XM_011532962.4",
"protein_id": "XP_011531264.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 387,
"cds_start": 360,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532962.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.360C>A",
"hgvs_p": "p.Phe120Leu",
"transcript": "XM_047444945.1",
"protein_id": "XP_047300901.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 387,
"cds_start": 360,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -4,
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{
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"criteria": [
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],
"verdict": "Likely_benign",
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"effects": [
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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
}