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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: 6-127989995-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=127989995&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 127989995,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001291981.2",
"consequences": [
{
"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": 30,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3096+774A>C",
"hgvs_p": null,
"transcript": "NM_002844.4",
"protein_id": "NP_002835.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1440,
"cds_start": null,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368226.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002844.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3096+774A>C",
"hgvs_p": null,
"transcript": "ENST00000368226.9",
"protein_id": "ENSP00000357209.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1440,
"cds_start": null,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002844.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368226.9"
},
{
"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": 33,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3162+774A>C",
"hgvs_p": null,
"transcript": "ENST00000532331.5",
"protein_id": "ENSP00000432973.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": null,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532331.5"
},
{
"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": 31,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3114+774A>C",
"hgvs_p": null,
"transcript": "ENST00000368213.9",
"protein_id": "ENSP00000357196.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1446,
"cds_start": null,
"cds_end": null,
"cds_length": 4341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368213.9"
},
{
"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": 30,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3093+774A>C",
"hgvs_p": null,
"transcript": "ENST00000368215.7",
"protein_id": "ENSP00000357198.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368215.7"
},
{
"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": 35,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3234+774A>C",
"hgvs_p": null,
"transcript": "ENST00000950862.1",
"protein_id": "ENSP00000620921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1486,
"cds_start": null,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950862.1"
},
{
"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": 32,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3228+774A>C",
"hgvs_p": null,
"transcript": "ENST00000876488.1",
"protein_id": "ENSP00000546547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1484,
"cds_start": null,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876488.1"
},
{
"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": 34,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3192+774A>C",
"hgvs_p": null,
"transcript": "ENST00000368207.7",
"protein_id": "ENSP00000357190.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1472,
"cds_start": null,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368207.7"
},
{
"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": 33,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3192+774A>C",
"hgvs_p": null,
"transcript": "ENST00000950864.1",
"protein_id": "ENSP00000620923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1472,
"cds_start": null,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950864.1"
},
{
"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": 31,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3189+774A>C",
"hgvs_p": null,
"transcript": "ENST00000930832.1",
"protein_id": "ENSP00000600891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1471,
"cds_start": null,
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"cds_length": 4416,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930832.1"
},
{
"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": 33,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3171+774A>C",
"hgvs_p": null,
"transcript": "ENST00000950859.1",
"protein_id": "ENSP00000620918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1465,
"cds_start": null,
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"cds_length": 4398,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950859.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3162+774A>C",
"hgvs_p": null,
"transcript": "NM_001291981.2",
"protein_id": "NP_001278910.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291981.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3150+774A>C",
"hgvs_p": null,
"transcript": "ENST00000368210.7",
"protein_id": "ENSP00000357193.3",
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"aa_start": null,
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"cds_start": null,
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"cds_length": 4377,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000368210.7"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 23,
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"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3132+774A>C",
"hgvs_p": null,
"transcript": "ENST00000876487.1",
"protein_id": "ENSP00000546546.1",
"transcript_support_level": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000876487.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3129+774A>C",
"hgvs_p": null,
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"biotype": "protein_coding",
"feature": "ENST00000930833.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3126+774A>C",
"hgvs_p": null,
"transcript": "ENST00000930831.1",
"protein_id": "ENSP00000600890.1",
"transcript_support_level": null,
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"feature": "ENST00000930831.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3114+774A>C",
"hgvs_p": null,
"transcript": "NM_001135648.3",
"protein_id": "NP_001129120.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": "NM_001135648.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 22,
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"gene_symbol": "PTPRK",
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"hgvs_c": "c.3111+774A>C",
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"transcript": "ENST00000950858.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3093+774A>C",
"hgvs_p": null,
"transcript": "NM_001291984.2",
"protein_id": "NP_001278913.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
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"hgvs_c": "c.3069+774A>C",
"hgvs_p": null,
"transcript": "ENST00000950863.1",
"protein_id": "ENSP00000620922.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950863.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.2973+774A>C",
"hgvs_p": null,
"transcript": "ENST00000876486.1",
"protein_id": "ENSP00000546545.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1399,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876486.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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{
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],
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"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -4,
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"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001291981.2",
"gene_symbol": "PTPRK",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
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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
}