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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: 2-11618305-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=11618305&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 11618305,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000381486.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3430G>A",
"hgvs_p": "p.Glu1144Lys",
"transcript": "NM_014668.4",
"protein_id": "NP_055483.2",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1949,
"cds_start": 3430,
"cds_end": null,
"cds_length": 5850,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 8555,
"mane_select": "ENST00000381486.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3430G>A",
"hgvs_p": "p.Glu1144Lys",
"transcript": "ENST00000381486.7",
"protein_id": "ENSP00000370896.2",
"transcript_support_level": 5,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1949,
"cds_start": 3430,
"cds_end": null,
"cds_length": 5850,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 8555,
"mane_select": "NM_014668.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3430G>A",
"hgvs_p": "p.Glu1144Lys",
"transcript": "ENST00000234142.9",
"protein_id": "ENSP00000234142.5",
"transcript_support_level": 1,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1949,
"cds_start": 3430,
"cds_end": null,
"cds_length": 5850,
"cdna_start": 3692,
"cdna_end": null,
"cdna_length": 8444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Glu142Lys",
"transcript": "ENST00000396123.2",
"protein_id": "ENSP00000379429.1",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 947,
"cds_start": 424,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 5296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3430G>A",
"hgvs_p": "p.Glu1144Lys",
"transcript": "XM_005246192.5",
"protein_id": "XP_005246249.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1949,
"cds_start": 3430,
"cds_end": null,
"cds_length": 5850,
"cdna_start": 3733,
"cdna_end": null,
"cdna_length": 8487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3430G>A",
"hgvs_p": "p.Glu1144Lys",
"transcript": "XM_024453250.2",
"protein_id": "XP_024309018.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1949,
"cds_start": 3430,
"cds_end": null,
"cds_length": 5850,
"cdna_start": 3881,
"cdna_end": null,
"cdna_length": 8635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3430G>A",
"hgvs_p": "p.Glu1144Lys",
"transcript": "XM_024453251.2",
"protein_id": "XP_024309019.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1949,
"cds_start": 3430,
"cds_end": null,
"cds_length": 5850,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 8421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3430G>A",
"hgvs_p": "p.Glu1144Lys",
"transcript": "XM_024453253.2",
"protein_id": "XP_024309021.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1949,
"cds_start": 3430,
"cds_end": null,
"cds_length": 5850,
"cdna_start": 3723,
"cdna_end": null,
"cdna_length": 8477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3430G>A",
"hgvs_p": "p.Glu1144Lys",
"transcript": "XM_024453256.2",
"protein_id": "XP_024309024.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1949,
"cds_start": 3430,
"cds_end": null,
"cds_length": 5850,
"cdna_start": 3681,
"cdna_end": null,
"cdna_length": 8435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3430G>A",
"hgvs_p": "p.Glu1144Lys",
"transcript": "XM_047446460.1",
"protein_id": "XP_047302416.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1949,
"cds_start": 3430,
"cds_end": null,
"cds_length": 5850,
"cdna_start": 3648,
"cdna_end": null,
"cdna_length": 8402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Glu1143Lys",
"transcript": "XM_011510418.4",
"protein_id": "XP_011508720.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1948,
"cds_start": 3427,
"cds_end": null,
"cds_length": 5847,
"cdna_start": 3878,
"cdna_end": null,
"cdna_length": 8632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Glu1143Lys",
"transcript": "XM_011510419.4",
"protein_id": "XP_011508721.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1948,
"cds_start": 3427,
"cds_end": null,
"cds_length": 5847,
"cdna_start": 3878,
"cdna_end": null,
"cdna_length": 8632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Glu1143Lys",
"transcript": "XM_047446461.1",
"protein_id": "XP_047302417.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1948,
"cds_start": 3427,
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"cds_length": 5847,
"cdna_start": 3730,
"cdna_end": null,
"cdna_length": 8484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Glu1143Lys",
"transcript": "XM_047446462.1",
"protein_id": "XP_047302418.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 3427,
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"cdna_start": 3664,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Glu1143Lys",
"transcript": "XM_047446463.1",
"protein_id": "XP_047302419.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1948,
"cds_start": 3427,
"cds_end": null,
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"cdna_start": 3720,
"cdna_end": null,
"cdna_length": 8474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Glu1143Lys",
"transcript": "XM_047446464.1",
"protein_id": "XP_047302420.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
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"cds_start": 3427,
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"cdna_start": 3798,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Glu1143Lys",
"transcript": "XM_047446465.1",
"protein_id": "XP_047302421.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1948,
"cds_start": 3427,
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"cdna_start": 3645,
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"cdna_length": 8399,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Glu1143Lys",
"transcript": "XM_047446466.1",
"protein_id": "XP_047302422.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1948,
"cds_start": 3427,
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"cdna_start": 3664,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Glu1143Lys",
"transcript": "XM_047446467.1",
"protein_id": "XP_047302423.1",
"transcript_support_level": null,
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"feature": null
},
{
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"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3424G>A",
"hgvs_p": "p.Glu1142Lys",
"transcript": "XM_047446468.1",
"protein_id": "XP_047302424.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
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"cds_start": 3424,
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"cdna_start": 3661,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
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"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.3430G>A",
"hgvs_p": "p.Glu1144Lys",
"transcript": "XM_047446469.1",
"protein_id": "XP_047302425.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1517,
"cds_start": 3430,
"cds_end": null,
"cds_length": 4554,
"cdna_start": 3881,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1",
"gene_hgnc_id": 24885,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Glu268Lys",
"transcript": "XM_011510422.2",
"protein_id": "XP_011508724.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1073,
"cds_start": 802,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 5654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.58,
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000381486.7",
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"effects": [
"missense_variant"
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}