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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: 6-109495419-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109495419&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 109495419,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001145128.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5337A>T",
"hgvs_p": "p.Glu1779Asp",
"transcript": "NM_001145128.3",
"protein_id": "NP_001138600.2",
"transcript_support_level": null,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1911,
"cds_start": 5337,
"cds_end": null,
"cds_length": 5736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000424296.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145128.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5337A>T",
"hgvs_p": "p.Glu1779Asp",
"transcript": "ENST00000424296.7",
"protein_id": "ENSP00000410186.2",
"transcript_support_level": 5,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1911,
"cds_start": 5337,
"cds_end": null,
"cds_length": 5736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145128.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424296.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.537A>T",
"hgvs_p": "p.Glu179Asp",
"transcript": "ENST00000490722.1",
"protein_id": "ENSP00000419758.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 311,
"cds_start": 537,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490722.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.1848A>T",
"hgvs_p": "p.Glu616Asp",
"transcript": "ENST00000470564.5",
"protein_id": "ENSP00000418771.1",
"transcript_support_level": 5,
"aa_start": 616,
"aa_end": null,
"aa_length": 748,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470564.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5568A>T",
"hgvs_p": "p.Glu1856Asp",
"transcript": "XM_011535550.3",
"protein_id": "XP_011533852.1",
"transcript_support_level": null,
"aa_start": 1856,
"aa_end": null,
"aa_length": 1988,
"cds_start": 5568,
"cds_end": null,
"cds_length": 5967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535550.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5568A>T",
"hgvs_p": "p.Glu1856Asp",
"transcript": "XM_024446350.2",
"protein_id": "XP_024302118.1",
"transcript_support_level": null,
"aa_start": 1856,
"aa_end": null,
"aa_length": 1988,
"cds_start": 5568,
"cds_end": null,
"cds_length": 5967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446350.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5553A>T",
"hgvs_p": "p.Glu1851Asp",
"transcript": "XM_006715376.4",
"protein_id": "XP_006715439.2",
"transcript_support_level": null,
"aa_start": 1851,
"aa_end": null,
"aa_length": 1983,
"cds_start": 5553,
"cds_end": null,
"cds_length": 5952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715376.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5352A>T",
"hgvs_p": "p.Glu1784Asp",
"transcript": "XM_011535552.3",
"protein_id": "XP_011533854.1",
"transcript_support_level": null,
"aa_start": 1784,
"aa_end": null,
"aa_length": 1916,
"cds_start": 5352,
"cds_end": null,
"cds_length": 5751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535552.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5352A>T",
"hgvs_p": "p.Glu1784Asp",
"transcript": "XM_011535553.4",
"protein_id": "XP_011533855.1",
"transcript_support_level": null,
"aa_start": 1784,
"aa_end": null,
"aa_length": 1916,
"cds_start": 5352,
"cds_end": null,
"cds_length": 5751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535553.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5247A>T",
"hgvs_p": "p.Glu1749Asp",
"transcript": "XM_011535554.3",
"protein_id": "XP_011533856.1",
"transcript_support_level": null,
"aa_start": 1749,
"aa_end": null,
"aa_length": 1881,
"cds_start": 5247,
"cds_end": null,
"cds_length": 5646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535554.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5031A>T",
"hgvs_p": "p.Glu1677Asp",
"transcript": "XM_047418304.1",
"protein_id": "XP_047274260.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 1809,
"cds_start": 5031,
"cds_end": null,
"cds_length": 5430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418304.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.5031A>T",
"hgvs_p": "p.Glu1677Asp",
"transcript": "XM_047418305.1",
"protein_id": "XP_047274261.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 1809,
"cds_start": 5031,
"cds_end": null,
"cds_length": 5430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418305.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.4707A>T",
"hgvs_p": "p.Glu1569Asp",
"transcript": "XM_017010385.3",
"protein_id": "XP_016865874.1",
"transcript_support_level": null,
"aa_start": 1569,
"aa_end": null,
"aa_length": 1701,
"cds_start": 4707,
"cds_end": null,
"cds_length": 5106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010385.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.4206A>T",
"hgvs_p": "p.Glu1402Asp",
"transcript": "XM_047418306.1",
"protein_id": "XP_047274262.1",
"transcript_support_level": null,
"aa_start": 1402,
"aa_end": null,
"aa_length": 1534,
"cds_start": 4206,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418306.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"hgvs_c": "c.3180A>T",
"hgvs_p": "p.Glu1060Asp",
"transcript": "XM_011535558.1",
"protein_id": "XP_011533860.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3180,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535558.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.258+851T>A",
"hgvs_p": null,
"transcript": "ENST00000423747.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000423747.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.1428+851T>A",
"hgvs_p": null,
"transcript": "ENST00000658720.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000658720.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.587+851T>A",
"hgvs_p": null,
"transcript": "ENST00000753218.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000753218.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.312+851T>A",
"hgvs_p": null,
"transcript": "ENST00000753219.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000753219.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.158+7360T>A",
"hgvs_p": null,
"transcript": "ENST00000753220.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000753220.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.322+851T>A",
"hgvs_p": null,
"transcript": "ENST00000753221.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000753221.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB24-DT",
"gene_hgnc_id": 55872,
"hgvs_c": "n.296+851T>A",
"hgvs_p": null,
"transcript": "ENST00000753222.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000753222.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"exon_count": 4,
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},
{
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],
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"gene_symbol": "ZBTB24-DT",
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},
{
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],
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"gene_symbol": "ZBTB24-DT",
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},
{
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],
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"gene_symbol": "ZBTB24-DT",
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"transcript": "NR_187591.1",
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"biotype": "pseudogene",
"feature": "NR_187591.1"
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],
"gene_symbol": "AK9",
"gene_hgnc_id": 33814,
"dbsnp": "rs1026816125",
"frequency_reference_population": 0.000014259639,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.00000821504,
"gnomad_genomes_af": 0.0000722695,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03394979238510132,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.0769,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.29,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001145128.3",
"gene_symbol": "AK9",
"hgnc_id": 33814,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5337A>T",
"hgvs_p": "p.Glu1779Asp"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000423747.2",
"gene_symbol": "ZBTB24-DT",
"hgnc_id": 55872,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.258+851T>A",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}