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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: 10-119827370-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119827370&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 119827370,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000650623.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2989A>C",
"hgvs_p": "p.Asn997His",
"transcript": "NM_014937.4",
"protein_id": "NP_055752.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2989,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3202,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": "ENST00000650623.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2989A>C",
"hgvs_p": "p.Asn997His",
"transcript": "ENST00000650623.2",
"protein_id": "ENSP00000497527.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2989,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3202,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": "NM_014937.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.3010A>C",
"hgvs_p": "p.Asn1004His",
"transcript": "NM_001441000.1",
"protein_id": "NP_001427929.1",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3010,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 3223,
"cdna_end": null,
"cdna_length": 5000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2938A>C",
"hgvs_p": "p.Asn980His",
"transcript": "NM_001441001.1",
"protein_id": "NP_001427930.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 3301,
"cdna_end": null,
"cdna_length": 5078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2935A>C",
"hgvs_p": "p.Asn979His",
"transcript": "NM_001441002.1",
"protein_id": "NP_001427931.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2935,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3148,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2932A>C",
"hgvs_p": "p.Asn978His",
"transcript": "NM_001441003.1",
"protein_id": "NP_001427932.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2932,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 3145,
"cdna_end": null,
"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2917A>C",
"hgvs_p": "p.Asn973His",
"transcript": "NM_001441004.1",
"protein_id": "NP_001427933.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2917,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 3130,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2908A>C",
"hgvs_p": "p.Asn970His",
"transcript": "NM_001441005.1",
"protein_id": "NP_001427934.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2908,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3121,
"cdna_end": null,
"cdna_length": 4898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2860A>C",
"hgvs_p": "p.Asn954His",
"transcript": "NM_001441006.1",
"protein_id": "NP_001427935.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2860,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3073,
"cdna_end": null,
"cdna_length": 4850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2860A>C",
"hgvs_p": "p.Asn954His",
"transcript": "NM_001441007.1",
"protein_id": "NP_001427936.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2860,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3073,
"cdna_end": null,
"cdna_length": 4850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2818A>C",
"hgvs_p": "p.Asn940His",
"transcript": "NM_001441008.1",
"protein_id": "NP_001427937.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2818,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 3031,
"cdna_end": null,
"cdna_length": 4808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2803A>C",
"hgvs_p": "p.Asn935His",
"transcript": "ENST00000648262.1",
"protein_id": "ENSP00000496843.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2803,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 4328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2701A>C",
"hgvs_p": "p.Asn901His",
"transcript": "NM_001441009.1",
"protein_id": "NP_001427938.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2701,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 3285,
"cdna_end": null,
"cdna_length": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2701A>C",
"hgvs_p": "p.Asn901His",
"transcript": "NM_001441010.1",
"protein_id": "NP_001427939.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2701,
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"cdna_start": 3371,
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"cdna_length": 5148,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2701A>C",
"hgvs_p": "p.Asn901His",
"transcript": "NM_001441011.1",
"protein_id": "NP_001427940.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2701,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 3288,
"cdna_end": null,
"cdna_length": 5065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2701A>C",
"hgvs_p": "p.Asn901His",
"transcript": "NM_001441012.1",
"protein_id": "NP_001427941.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
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"cds_start": 2701,
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"cdna_start": 3253,
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"cdna_length": 5030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2701A>C",
"hgvs_p": "p.Asn901His",
"transcript": "NM_001441013.1",
"protein_id": "NP_001427942.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2701,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 3384,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2701A>C",
"hgvs_p": "p.Asn901His",
"transcript": "ENST00000647699.1",
"protein_id": "ENSP00000497772.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2701,
"cds_end": null,
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"cdna_start": 3091,
"cdna_end": null,
"cdna_length": 4081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2701A>C",
"hgvs_p": "p.Asn901His",
"transcript": "ENST00000649454.1",
"protein_id": "ENSP00000497846.1",
"transcript_support_level": null,
"aa_start": 901,
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"cds_start": 2701,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2635A>C",
"hgvs_p": "p.Asn879His",
"transcript": "NM_001441014.1",
"protein_id": "NP_001427943.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2635,
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"cdna_start": 2848,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2485A>C",
"hgvs_p": "p.Asn829His",
"transcript": "NM_001441015.1",
"protein_id": "NP_001427944.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 964,
"cds_start": 2485,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 3065,
"cdna_end": null,
"cdna_length": 4842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.2485A>C",
"hgvs_p": "p.Asn829His",
"transcript": "NM_001441016.1",
"protein_id": "NP_001427945.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 964,
"cds_start": 2485,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 2936,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
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{
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{
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],
"gene_symbol": "INPP5F",
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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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
}