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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: 3-16271035-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=16271035&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 16271035,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_138381.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.83T>A",
"hgvs_p": "p.Leu28*",
"transcript": "NM_138381.5",
"protein_id": "NP_612390.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 312,
"cds_start": 83,
"cds_end": null,
"cds_length": 939,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": "ENST00000285083.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.83T>A",
"hgvs_p": "p.Leu28*",
"transcript": "ENST00000285083.10",
"protein_id": "ENSP00000285083.5",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 312,
"cds_start": 83,
"cds_end": null,
"cds_length": 939,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": "NM_138381.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.83T>A",
"hgvs_p": "p.Leu28*",
"transcript": "ENST00000605932.5",
"protein_id": "ENSP00000475547.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 312,
"cds_start": 83,
"cds_end": null,
"cds_length": 939,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "n.83T>A",
"hgvs_p": null,
"transcript": "ENST00000452581.5",
"protein_id": "ENSP00000397374.1",
"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": 960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Leu46*",
"transcript": "NM_001330670.3",
"protein_id": "NP_001317599.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 330,
"cds_start": 137,
"cds_end": null,
"cds_length": 993,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Leu46*",
"transcript": "NM_001330671.3",
"protein_id": "NP_001317600.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 330,
"cds_start": 137,
"cds_end": null,
"cds_length": 993,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Leu46*",
"transcript": "ENST00000435829.6",
"protein_id": "ENSP00000389872.2",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 330,
"cds_start": 137,
"cds_end": null,
"cds_length": 993,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Leu46*",
"transcript": "ENST00000627468.2",
"protein_id": "ENSP00000487136.1",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 330,
"cds_start": 137,
"cds_end": null,
"cds_length": 993,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.83T>A",
"hgvs_p": "p.Leu28*",
"transcript": "NM_001352977.2",
"protein_id": "NP_001339906.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 312,
"cds_start": 83,
"cds_end": null,
"cds_length": 939,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.83T>A",
"hgvs_p": "p.Leu28*",
"transcript": "NM_001352978.2",
"protein_id": "NP_001339907.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 312,
"cds_start": 83,
"cds_end": null,
"cds_length": 939,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 4205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.83T>A",
"hgvs_p": "p.Leu28*",
"transcript": "NM_001440211.1",
"protein_id": "NP_001427140.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 312,
"cds_start": 83,
"cds_end": null,
"cds_length": 939,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.83T>A",
"hgvs_p": "p.Leu28*",
"transcript": "ENST00000606098.1",
"protein_id": "ENSP00000476239.1",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 311,
"cds_start": 83,
"cds_end": null,
"cds_length": 936,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.302T>A",
"hgvs_p": "p.Leu101*",
"transcript": "XM_005265559.5",
"protein_id": "XP_005265616.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 385,
"cds_start": 302,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.302T>A",
"hgvs_p": "p.Leu101*",
"transcript": "XM_011534230.4",
"protein_id": "XP_011532532.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 385,
"cds_start": 302,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 4711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "c.302T>A",
"hgvs_p": "p.Leu101*",
"transcript": "XM_011534235.4",
"protein_id": "XP_011532537.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 385,
"cds_start": 302,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "n.83T>A",
"hgvs_p": null,
"transcript": "ENST00000442255.5",
"protein_id": "ENSP00000398867.1",
"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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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "n.515T>A",
"hgvs_p": null,
"transcript": "ENST00000486267.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "n.535T>A",
"hgvs_p": null,
"transcript": "NR_148217.2",
"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": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "n.535T>A",
"hgvs_p": null,
"transcript": "NR_148218.2",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "n.535T>A",
"hgvs_p": null,
"transcript": "NR_148219.2",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "n.535T>A",
"hgvs_p": null,
"transcript": "NR_148220.2",
"protein_id": null,
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"aa_length": null,
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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": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "n.535T>A",
"hgvs_p": null,
"transcript": "NR_199631.1",
"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": 2122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXNAD1",
"gene_hgnc_id": 25128,
"hgvs_c": "n.905T>A",
"hgvs_p": null,
"transcript": "XR_007095766.1",
"protein_id": null,
"transcript_support_level": null,
"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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}
],
"gene_symbol": "OXNAD1",
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"dbsnp": "rs2064893002",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_score_selected": -0.029999999329447746,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -0.402,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": [
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"verdict": "Uncertain_significance",
"transcript": "NM_138381.5",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Leu28*"
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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
}