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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: 17-68877520-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68877520&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68877520,
"ref": "G",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001288985.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4198C>A",
"hgvs_p": "p.Arg1400Arg",
"transcript": "NM_001288985.2",
"protein_id": "NP_001275914.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4198,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000586539.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288985.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4198C>A",
"hgvs_p": "p.Arg1400Arg",
"transcript": "ENST00000586539.6",
"protein_id": "ENSP00000467271.1",
"transcript_support_level": 1,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4198,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001288985.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586539.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4183C>A",
"hgvs_p": "p.Arg1395Arg",
"transcript": "ENST00000430352.6",
"protein_id": "ENSP00000402814.3",
"transcript_support_level": 1,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4183,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430352.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4078C>A",
"hgvs_p": "p.Arg1360Arg",
"transcript": "ENST00000269080.6",
"protein_id": "ENSP00000269080.1",
"transcript_support_level": 1,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4078,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269080.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4210C>A",
"hgvs_p": "p.Arg1404Arg",
"transcript": "ENST00000948182.1",
"protein_id": "ENSP00000618241.1",
"transcript_support_level": null,
"aa_start": 1404,
"aa_end": null,
"aa_length": 1625,
"cds_start": 4210,
"cds_end": null,
"cds_length": 4878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948182.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4198C>A",
"hgvs_p": "p.Arg1400Arg",
"transcript": "ENST00000899806.1",
"protein_id": "ENSP00000569865.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4198,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899806.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4198C>A",
"hgvs_p": "p.Arg1400Arg",
"transcript": "ENST00000899808.1",
"protein_id": "ENSP00000569867.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4198,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899808.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4198C>A",
"hgvs_p": "p.Arg1400Arg",
"transcript": "ENST00000899809.1",
"protein_id": "ENSP00000569868.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4198,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899809.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4186C>A",
"hgvs_p": "p.Arg1396Arg",
"transcript": "ENST00000948183.1",
"protein_id": "ENSP00000618242.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4186,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948183.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4186C>A",
"hgvs_p": "p.Arg1396Arg",
"transcript": "ENST00000948187.1",
"protein_id": "ENSP00000618246.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4186,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948187.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4183C>A",
"hgvs_p": "p.Arg1395Arg",
"transcript": "NM_001288986.2",
"protein_id": "NP_001275915.1",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4183,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288986.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4090C>A",
"hgvs_p": "p.Arg1364Arg",
"transcript": "ENST00000948184.1",
"protein_id": "ENSP00000618243.1",
"transcript_support_level": null,
"aa_start": 1364,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4090,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948184.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4078C>A",
"hgvs_p": "p.Arg1360Arg",
"transcript": "NM_007168.4",
"protein_id": "NP_009099.1",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4078,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007168.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4078C>A",
"hgvs_p": "p.Arg1360Arg",
"transcript": "ENST00000948185.1",
"protein_id": "ENSP00000618244.1",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4078,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948185.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4015C>A",
"hgvs_p": "p.Arg1339Arg",
"transcript": "NM_001375771.1",
"protein_id": "NP_001362700.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1560,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375771.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4012C>A",
"hgvs_p": "p.Arg1338Arg",
"transcript": "ENST00000899810.1",
"protein_id": "ENSP00000569869.1",
"transcript_support_level": null,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1559,
"cds_start": 4012,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899810.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "NM_001375772.1",
"protein_id": "NP_001362701.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1147,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375772.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.2557C>A",
"hgvs_p": "p.Arg853Arg",
"transcript": "ENST00000948188.1",
"protein_id": "ENSP00000618247.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2557,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948188.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4198C>A",
"hgvs_p": "p.Arg1400Arg",
"transcript": "XM_047435108.1",
"protein_id": "XP_047291064.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4198,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435108.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4109+191C>A",
"hgvs_p": null,
"transcript": "ENST00000948186.1",
"protein_id": "ENSP00000618245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948186.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.798-817C>A",
"hgvs_p": null,
"transcript": "ENST00000899807.1",
"protein_id": "ENSP00000569866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899807.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
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"verdict": "Likely_benign",
"transcript": "NM_001288985.2",
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"effects": [
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"synonymous_variant"
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{
"score": -2,
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"PM2",
"BP4_Strong"
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"verdict": "Likely_benign",
"transcript": "XR_001752986.3",
"gene_symbol": "LOC105371874",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2589G>T",
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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
}