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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: 19-15424627-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=15424627&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 15424627,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001371589.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5300G>A",
"hgvs_p": "p.Arg1767Gln",
"transcript": "NM_001371589.1",
"protein_id": "NP_001358518.1",
"transcript_support_level": null,
"aa_start": 1767,
"aa_end": null,
"aa_length": 1889,
"cds_start": 5300,
"cds_end": null,
"cds_length": 5670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000673675.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371589.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5300G>A",
"hgvs_p": "p.Arg1767Gln",
"transcript": "ENST00000673675.1",
"protein_id": "ENSP00000500993.1",
"transcript_support_level": null,
"aa_start": 1767,
"aa_end": null,
"aa_length": 1889,
"cds_start": 5300,
"cds_end": null,
"cds_length": 5670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001371589.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673675.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2528G>A",
"hgvs_p": "p.Arg843Gln",
"transcript": "ENST00000545156.5",
"protein_id": "ENSP00000445824.1",
"transcript_support_level": 1,
"aa_start": 843,
"aa_end": null,
"aa_length": 965,
"cds_start": 2528,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545156.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Arg710Gln",
"transcript": "ENST00000389282.8",
"protein_id": "ENSP00000373933.5",
"transcript_support_level": 1,
"aa_start": 710,
"aa_end": null,
"aa_length": 832,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389282.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5129G>A",
"hgvs_p": "p.Arg1710Gln",
"transcript": "ENST00000864800.1",
"protein_id": "ENSP00000534861.1",
"transcript_support_level": null,
"aa_start": 1710,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5129,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864800.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5129G>A",
"hgvs_p": "p.Arg1710Gln",
"transcript": "ENST00000926419.1",
"protein_id": "ENSP00000596478.1",
"transcript_support_level": null,
"aa_start": 1710,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5129,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926419.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.4901G>A",
"hgvs_p": "p.Arg1634Gln",
"transcript": "NM_001439242.1",
"protein_id": "NP_001426171.1",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 1756,
"cds_start": 4901,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439242.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.4730G>A",
"hgvs_p": "p.Arg1577Gln",
"transcript": "NM_001411129.1",
"protein_id": "NP_001398058.1",
"transcript_support_level": null,
"aa_start": 1577,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4730,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411129.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.4730G>A",
"hgvs_p": "p.Arg1577Gln",
"transcript": "NM_001439243.1",
"protein_id": "NP_001426172.1",
"transcript_support_level": null,
"aa_start": 1577,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4730,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439243.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.4730G>A",
"hgvs_p": "p.Arg1577Gln",
"transcript": "ENST00000643092.1",
"protein_id": "ENSP00000495441.1",
"transcript_support_level": null,
"aa_start": 1577,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4730,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643092.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.4226G>A",
"hgvs_p": "p.Arg1409Gln",
"transcript": "ENST00000926418.1",
"protein_id": "ENSP00000596477.1",
"transcript_support_level": null,
"aa_start": 1409,
"aa_end": null,
"aa_length": 1531,
"cds_start": 4226,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926418.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.3089G>A",
"hgvs_p": "p.Arg1030Gln",
"transcript": "NM_001439244.1",
"protein_id": "NP_001426173.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3089,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439244.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2978G>A",
"hgvs_p": "p.Arg993Gln",
"transcript": "NM_001439245.1",
"protein_id": "NP_001426174.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439245.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2918G>A",
"hgvs_p": "p.Arg973Gln",
"transcript": "ENST00000864804.1",
"protein_id": "ENSP00000534863.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864804.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2918G>A",
"hgvs_p": "p.Arg973Gln",
"transcript": "ENST00000926417.1",
"protein_id": "ENSP00000596476.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926417.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2831G>A",
"hgvs_p": "p.Arg944Gln",
"transcript": "NM_001371603.5",
"protein_id": "NP_001358532.2",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371603.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2831G>A",
"hgvs_p": "p.Arg944Gln",
"transcript": "ENST00000674001.1",
"protein_id": "ENSP00000501300.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674001.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2807G>A",
"hgvs_p": "p.Arg936Gln",
"transcript": "NM_001439246.1",
"protein_id": "NP_001426175.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439246.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2537G>A",
"hgvs_p": "p.Arg846Gln",
"transcript": "NM_001439247.1",
"protein_id": "NP_001426176.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 968,
"cds_start": 2537,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439247.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2537G>A",
"hgvs_p": "p.Arg846Gln",
"transcript": "NM_001439248.1",
"protein_id": "NP_001426177.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 968,
"cds_start": 2537,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439248.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2537G>A",
"hgvs_p": "p.Arg846Gln",
"transcript": "ENST00000599910.6",
"protein_id": "ENSP00000469022.1",
"transcript_support_level": 5,
"aa_start": 846,
"aa_end": null,
"aa_length": 968,
"cds_start": 2537,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599910.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2519G>A",
"hgvs_p": "p.Arg840Gln",
"transcript": "NM_001439249.1",
"protein_id": "NP_001426178.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 962,
"cds_start": 2519,
"cds_end": null,
"cds_length": 2889,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}