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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: 12-49500147-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=49500147&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 49500147,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_023071.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "NM_023071.4",
"protein_id": "NP_075559.2",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": "ENST00000552918.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023071.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "ENST00000552918.6",
"protein_id": "ENSP00000447947.2",
"transcript_support_level": 2,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": "NM_023071.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552918.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "ENST00000321898.10",
"protein_id": "ENSP00000326841.6",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321898.10"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "ENST00000553127.5",
"protein_id": "ENSP00000448228.1",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553127.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "NM_001293285.2",
"protein_id": "NP_001280214.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 3324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293285.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "NM_001293286.2",
"protein_id": "NP_001280215.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293286.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "ENST00000903511.1",
"protein_id": "ENSP00000573570.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903511.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "ENST00000903512.1",
"protein_id": "ENSP00000573571.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903512.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "ENST00000903513.1",
"protein_id": "ENSP00000573572.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903513.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "ENST00000903514.1",
"protein_id": "ENSP00000573573.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903514.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "ENST00000932995.1",
"protein_id": "ENSP00000603054.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932995.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "ENST00000932996.1",
"protein_id": "ENSP00000603055.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932996.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "ENST00000932997.1",
"protein_id": "ENSP00000603056.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932997.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "ENST00000933000.1",
"protein_id": "ENSP00000603059.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933000.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "ENST00000933002.1",
"protein_id": "ENSP00000603061.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933002.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"transcript": "ENST00000952610.1",
"protein_id": "ENSP00000622669.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 781,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952610.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Glu258Gln",
"transcript": "ENST00000933001.1",
"protein_id": "ENSP00000603060.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 542,
"cds_start": 772,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 3239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933001.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Glu257Gln",
"transcript": "ENST00000933004.1",
"protein_id": "ENSP00000603063.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 541,
"cds_start": 769,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933004.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Glu208Gln",
"transcript": "ENST00000933003.1",
"protein_id": "ENSP00000603062.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 492,
"cds_start": 622,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933003.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Glu208Gln",
"transcript": "ENST00000952609.1",
"protein_id": "ENSP00000622668.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 492,
"cds_start": 622,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952609.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.604G>C",
"hgvs_p": "p.Glu202Gln",
"transcript": "ENST00000932998.1",
"protein_id": "ENSP00000603057.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 486,
"cds_start": 604,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932998.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATS2",
"gene_hgnc_id": 18650,
"hgvs_c": "c.604G>C",
"hgvs_p": "p.Glu202Gln",
"transcript": "ENST00000932999.1",
"protein_id": "ENSP00000603058.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 486,
"cds_start": 604,
"cds_end": null,
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"phenotype_combined": "not specified",
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}
],
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}