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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: 1-160092663-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160092663&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160092663,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_052868.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Arg",
"transcript": "NM_052868.6",
"protein_id": "NP_443100.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 613,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314485.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052868.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Arg",
"transcript": "ENST00000314485.12",
"protein_id": "ENSP00000316664.7",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 613,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052868.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314485.12"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Arg",
"transcript": "ENST00000368086.5",
"protein_id": "ENSP00000357065.1",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 613,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368086.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Arg",
"transcript": "ENST00000614243.4",
"protein_id": "ENSP00000477565.1",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 613,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614243.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Arg",
"transcript": "NM_001206665.2",
"protein_id": "NP_001193594.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 613,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206665.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Arg",
"transcript": "NM_001320247.2",
"protein_id": "NP_001307176.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 613,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320247.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Arg",
"transcript": "ENST00000883984.1",
"protein_id": "ENSP00000554043.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 613,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883984.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Arg",
"transcript": "ENST00000883985.1",
"protein_id": "ENSP00000554044.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 613,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883985.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Arg",
"transcript": "ENST00000883986.1",
"protein_id": "ENSP00000554045.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 613,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883986.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Arg",
"transcript": "ENST00000883988.1",
"protein_id": "ENSP00000554047.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 613,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883988.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Arg",
"transcript": "ENST00000918092.1",
"protein_id": "ENSP00000588151.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 613,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918092.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Arg",
"transcript": "ENST00000942049.1",
"protein_id": "ENSP00000612108.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 613,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942049.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Gly449Arg",
"transcript": "ENST00000942050.1",
"protein_id": "ENSP00000612109.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 613,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942050.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000918090.1",
"protein_id": "ENSP00000588149.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 610,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918090.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Arg",
"transcript": "ENST00000883991.1",
"protein_id": "ENSP00000554050.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 519,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883991.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Gly323Arg",
"transcript": "ENST00000918089.1",
"protein_id": "ENSP00000588148.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 487,
"cds_start": 967,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918089.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Gly323Arg",
"transcript": "ENST00000918094.1",
"protein_id": "ENSP00000588153.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 487,
"cds_start": 967,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918094.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000918093.1",
"protein_id": "ENSP00000588152.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 477,
"cds_start": 937,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918093.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.883G>A",
"hgvs_p": "p.Gly295Arg",
"transcript": "ENST00000942051.1",
"protein_id": "ENSP00000612110.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 459,
"cds_start": 883,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942051.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "ENST00000918095.1",
"protein_id": "ENSP00000588154.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 333,
"cds_start": 505,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918095.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Gly159Arg",
"transcript": "ENST00000883987.1",
"protein_id": "ENSP00000554046.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 323,
"cds_start": 475,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883987.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF8",
"gene_hgnc_id": 17813,
"hgvs_c": "c.97G>A",
"hgvs_p": "p.Gly33Arg",
"transcript": "ENST00000883989.1",
"protein_id": "ENSP00000554048.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 197,
"cds_start": 97,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.5,
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"phylop100way_prediction": "Benign",
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{
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],
"verdict": "Likely_benign",
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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
}