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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: 8-17653432-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17653432&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17653432,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001363059.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3281C>A",
"hgvs_p": "p.Ser1094*",
"transcript": "NM_001363059.2",
"protein_id": "NP_001349988.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3469,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": "ENST00000693296.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3281C>A",
"hgvs_p": "p.Ser1094*",
"transcript": "ENST00000693296.1",
"protein_id": "ENSP00000509719.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3469,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": "NM_001363059.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3281C>A",
"hgvs_p": "p.Ser1094*",
"transcript": "ENST00000262102.10",
"protein_id": "ENSP00000262102.6",
"transcript_support_level": 1,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3506,
"cdna_end": null,
"cdna_length": 6160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.779C>A",
"hgvs_p": "p.Ser260*",
"transcript": "ENST00000297488.10",
"protein_id": "ENSP00000297488.6",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 436,
"cds_start": 779,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 3731,
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "n.*1029C>A",
"hgvs_p": null,
"transcript": "ENST00000520196.5",
"protein_id": "ENSP00000431016.1",
"transcript_support_level": 1,
"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": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "n.*1029C>A",
"hgvs_p": null,
"transcript": "ENST00000520196.5",
"protein_id": "ENSP00000431016.1",
"transcript_support_level": 1,
"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": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3281C>A",
"hgvs_p": "p.Ser1094*",
"transcript": "NM_001363057.2",
"protein_id": "NP_001349986.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3469,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3281C>A",
"hgvs_p": "p.Ser1094*",
"transcript": "NM_001001924.3",
"protein_id": "NP_001001924.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3755,
"cdna_end": null,
"cdna_length": 6411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3281C>A",
"hgvs_p": "p.Ser1094*",
"transcript": "NM_001363058.2",
"protein_id": "NP_001349987.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3527,
"cdna_end": null,
"cdna_length": 6183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3281C>A",
"hgvs_p": "p.Ser1094*",
"transcript": "NM_001363061.2",
"protein_id": "NP_001349990.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3496,
"cdna_end": null,
"cdna_length": 6152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3119C>A",
"hgvs_p": "p.Ser1040*",
"transcript": "NM_001363060.2",
"protein_id": "NP_001349989.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3119,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 3307,
"cdna_end": null,
"cdna_length": 5959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3119C>A",
"hgvs_p": "p.Ser1040*",
"transcript": "NM_001001925.3",
"protein_id": "NP_001001925.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3119,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3593,
"cdna_end": null,
"cdna_length": 6249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3119C>A",
"hgvs_p": "p.Ser1040*",
"transcript": "NM_001363062.2",
"protein_id": "NP_001349991.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3119,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3307,
"cdna_end": null,
"cdna_length": 5963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3119C>A",
"hgvs_p": "p.Ser1040*",
"transcript": "ENST00000381869.5",
"protein_id": "ENSP00000371293.3",
"transcript_support_level": 5,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3119,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3593,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3119C>A",
"hgvs_p": "p.Ser1040*",
"transcript": "ENST00000519263.5",
"protein_id": "ENSP00000430167.1",
"transcript_support_level": 2,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3119,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3293,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.1022C>A",
"hgvs_p": "p.Ser341*",
"transcript": "NM_001001931.3",
"protein_id": "NP_001001931.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 517,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.1022C>A",
"hgvs_p": "p.Ser341*",
"transcript": "ENST00000381861.7",
"protein_id": "ENSP00000371285.3",
"transcript_support_level": 2,
"aa_start": 341,
"aa_end": null,
"aa_length": 517,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.779C>A",
"hgvs_p": "p.Ser260*",
"transcript": "NM_020749.5",
"protein_id": "NP_065800.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 436,
"cds_start": 779,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001166393.2",
"protein_id": "NP_001159865.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 415,
"cds_start": 716,
"cds_end": null,
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"cdna_start": 987,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000544260.3",
"protein_id": "ENSP00000445738.1",
"transcript_support_level": 2,
"aa_start": 239,
"aa_end": null,
"aa_length": 415,
"cds_start": 716,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.497C>A",
"hgvs_p": "p.Ser166*",
"transcript": "NM_001330470.2",
"protein_id": "NP_001317399.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 342,
"cds_start": 497,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.497C>A",
"hgvs_p": "p.Ser166*",
"transcript": "ENST00000634613.1",
"protein_id": "ENSP00000489288.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 342,
"cds_start": 497,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1193,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "n.1644C>A",
"hgvs_p": null,
"transcript": "ENST00000517413.5",
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},
{
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{
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},
{
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],
"gene_symbol": "MTUS1",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.27000001072883606,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.825,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
"transcript": "NM_001363059.2",
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"effects": [
"stop_gained"
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"inheritance_mode": "AR",
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"hgvs_p": "p.Ser1094*"
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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
}