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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: 4-102263055-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=102263055&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 102263055,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022154.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "NM_001135146.2",
"protein_id": "NP_001128618.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356736.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135146.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000356736.5",
"protein_id": "ENSP00000349174.4",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001135146.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356736.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000394833.6",
"protein_id": "ENSP00000378310.2",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394833.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1663G>C",
"hgvs_p": "p.Glu555Gln",
"transcript": "ENST00000856304.1",
"protein_id": "ENSP00000526363.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 557,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856304.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1522G>C",
"hgvs_p": "p.Glu508Gln",
"transcript": "ENST00000856296.1",
"protein_id": "ENSP00000526355.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 510,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856296.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1522G>C",
"hgvs_p": "p.Glu508Gln",
"transcript": "ENST00000856302.1",
"protein_id": "ENSP00000526361.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 510,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856302.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1513G>C",
"hgvs_p": "p.Glu505Gln",
"transcript": "ENST00000856300.1",
"protein_id": "ENSP00000526359.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 507,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856300.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1513G>C",
"hgvs_p": "p.Glu505Gln",
"transcript": "ENST00000943559.1",
"protein_id": "ENSP00000613618.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 507,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943559.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1501G>C",
"hgvs_p": "p.Glu501Gln",
"transcript": "ENST00000856298.1",
"protein_id": "ENSP00000526357.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 503,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856298.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1456G>C",
"hgvs_p": "p.Glu486Gln",
"transcript": "ENST00000856295.1",
"protein_id": "ENSP00000526354.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 488,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856295.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "NM_022154.5",
"protein_id": "NP_071437.3",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022154.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000682227.1",
"protein_id": "ENSP00000508363.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682227.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000682932.1",
"protein_id": "ENSP00000507414.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682932.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000683412.1",
"protein_id": "ENSP00000507538.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683412.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000856285.1",
"protein_id": "ENSP00000526344.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856285.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000856286.1",
"protein_id": "ENSP00000526345.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856286.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000856287.1",
"protein_id": "ENSP00000526346.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856287.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000856288.1",
"protein_id": "ENSP00000526347.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856288.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000856289.1",
"protein_id": "ENSP00000526348.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856289.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000943556.1",
"protein_id": "ENSP00000613615.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943556.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Glu458Gln",
"transcript": "ENST00000943557.1",
"protein_id": "ENSP00000613616.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 460,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943557.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.1369G>C",
"hgvs_p": "p.Glu457Gln",
"transcript": "ENST00000856297.1",
"protein_id": "ENSP00000526356.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 459,
"cds_start": 1369,
"cds_end": null,
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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],
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "SLC39A8-CDG",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}