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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: 6-43037813-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43037813&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43037813,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014780.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4972G>A",
"hgvs_p": "p.Glu1658Lys",
"transcript": "NM_014780.5",
"protein_id": "NP_055595.2",
"transcript_support_level": null,
"aa_start": 1658,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4972,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 5210,
"cdna_end": null,
"cdna_length": 5406,
"mane_select": "ENST00000265348.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4972G>A",
"hgvs_p": "p.Glu1658Lys",
"transcript": "ENST00000265348.9",
"protein_id": "ENSP00000265348.4",
"transcript_support_level": 1,
"aa_start": 1658,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4972,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 5210,
"cdna_end": null,
"cdna_length": 5406,
"mane_select": "NM_014780.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5068G>A",
"hgvs_p": "p.Glu1690Lys",
"transcript": "NM_001168370.2",
"protein_id": "NP_001161842.2",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 1730,
"cds_start": 5068,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 5217,
"cdna_end": null,
"cdna_length": 5413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5068G>A",
"hgvs_p": "p.Glu1690Lys",
"transcript": "NM_001374872.1",
"protein_id": "NP_001361801.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 1730,
"cds_start": 5068,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 5306,
"cdna_end": null,
"cdna_length": 5502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5068G>A",
"hgvs_p": "p.Glu1690Lys",
"transcript": "ENST00000674100.1",
"protein_id": "ENSP00000501292.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 1730,
"cds_start": 5068,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 5398,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5068G>A",
"hgvs_p": "p.Glu1690Lys",
"transcript": "ENST00000674134.1",
"protein_id": "ENSP00000501068.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 1730,
"cds_start": 5068,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 5256,
"cdna_end": null,
"cdna_length": 5427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4984G>A",
"hgvs_p": "p.Glu1662Lys",
"transcript": "NM_001374873.1",
"protein_id": "NP_001361802.1",
"transcript_support_level": null,
"aa_start": 1662,
"aa_end": null,
"aa_length": 1702,
"cds_start": 4984,
"cds_end": null,
"cds_length": 5109,
"cdna_start": 5222,
"cdna_end": null,
"cdna_length": 5418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4972G>A",
"hgvs_p": "p.Glu1658Lys",
"transcript": "ENST00000690231.1",
"protein_id": "ENSP00000508461.1",
"transcript_support_level": null,
"aa_start": 1658,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4972,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 5172,
"cdna_end": null,
"cdna_length": 5354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4969G>A",
"hgvs_p": "p.Glu1657Lys",
"transcript": "NM_001374874.1",
"protein_id": "NP_001361803.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4969,
"cds_end": null,
"cds_length": 5094,
"cdna_start": 5207,
"cdna_end": null,
"cdna_length": 5403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Glu333Lys",
"transcript": "ENST00000692002.1",
"protein_id": "ENSP00000508567.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 373,
"cds_start": 997,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5107G>A",
"hgvs_p": "p.Glu1703Lys",
"transcript": "XM_017011533.2",
"protein_id": "XP_016867022.2",
"transcript_support_level": null,
"aa_start": 1703,
"aa_end": null,
"aa_length": 1743,
"cds_start": 5107,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5256,
"cdna_end": null,
"cdna_length": 5452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5095G>A",
"hgvs_p": "p.Glu1699Lys",
"transcript": "XM_017011534.2",
"protein_id": "XP_016867023.2",
"transcript_support_level": null,
"aa_start": 1699,
"aa_end": null,
"aa_length": 1739,
"cds_start": 5095,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 5244,
"cdna_end": null,
"cdna_length": 5440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5080G>A",
"hgvs_p": "p.Glu1694Lys",
"transcript": "XM_011515019.3",
"protein_id": "XP_011513321.2",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 1734,
"cds_start": 5080,
"cds_end": null,
"cds_length": 5205,
"cdna_start": 5229,
"cdna_end": null,
"cdna_length": 5425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5011G>A",
"hgvs_p": "p.Glu1671Lys",
"transcript": "XM_017011535.2",
"protein_id": "XP_016867024.2",
"transcript_support_level": null,
"aa_start": 1671,
"aa_end": null,
"aa_length": 1711,
"cds_start": 5011,
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"cds_length": 5136,
"cdna_start": 5160,
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"cdna_length": 5356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4999G>A",
"hgvs_p": "p.Glu1667Lys",
"transcript": "XM_047419600.1",
"protein_id": "XP_047275556.1",
"transcript_support_level": null,
"aa_start": 1667,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4999,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 5148,
"cdna_end": null,
"cdna_length": 5344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4984G>A",
"hgvs_p": "p.Glu1662Lys",
"transcript": "XM_011515020.3",
"protein_id": "XP_011513322.2",
"transcript_support_level": null,
"aa_start": 1662,
"aa_end": null,
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"cds_start": 4984,
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"cdna_start": 5133,
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"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4972G>A",
"hgvs_p": "p.Glu1658Lys",
"transcript": "XM_005249503.4",
"protein_id": "XP_005249560.2",
"transcript_support_level": null,
"aa_start": 1658,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4972,
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"cds_length": 5097,
"cdna_start": 5121,
"cdna_end": null,
"cdna_length": 5317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.2845G>A",
"hgvs_p": "p.Glu949Lys",
"transcript": "XM_011515021.2",
"protein_id": "XP_011513323.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 989,
"cds_start": 2845,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2950,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.2833G>A",
"hgvs_p": "p.Glu945Lys",
"transcript": "XM_047419601.1",
"protein_id": "XP_047275557.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 2833,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "n.3192G>A",
"hgvs_p": null,
"transcript": "ENST00000478630.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "n.*314G>A",
"hgvs_p": null,
"transcript": "ENST00000674112.2",
"protein_id": "ENSP00000501166.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "n.1519G>A",
"hgvs_p": null,
"transcript": "ENST00000683242.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
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{
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}
],
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"dbsnp": "rs143717016",
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.849,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014780.5",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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],
"clinvar_disease": "3M syndrome 1,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "3M syndrome 1|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}