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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: 4-142028816-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=142028816&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 142028816,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001101669.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2741C>A",
"hgvs_p": "p.Pro914His",
"transcript": "NM_001101669.3",
"protein_id": "NP_001095139.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 924,
"cds_start": 2741,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": "ENST00000262992.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2741C>A",
"hgvs_p": "p.Pro914His",
"transcript": "ENST00000262992.9",
"protein_id": "ENSP00000262992.4",
"transcript_support_level": 5,
"aa_start": 914,
"aa_end": null,
"aa_length": 924,
"cds_start": 2741,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": "NM_001101669.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2741C>A",
"hgvs_p": "p.Pro914His",
"transcript": "ENST00000508116.5",
"protein_id": "ENSP00000423954.1",
"transcript_support_level": 1,
"aa_start": 914,
"aa_end": null,
"aa_length": 924,
"cds_start": 2741,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3094,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2741C>A",
"hgvs_p": "p.Pro914His",
"transcript": "ENST00000513000.5",
"protein_id": "ENSP00000425487.1",
"transcript_support_level": 1,
"aa_start": 914,
"aa_end": null,
"aa_length": 924,
"cds_start": 2741,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3175,
"cdna_end": null,
"cdna_length": 8831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2768C>A",
"hgvs_p": "p.Pro923His",
"transcript": "NM_001385339.1",
"protein_id": "NP_001372268.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 933,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 3257,
"cdna_end": null,
"cdna_length": 8913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2768C>A",
"hgvs_p": "p.Pro923His",
"transcript": "NM_001385343.1",
"protein_id": "NP_001372272.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 933,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 3154,
"cdna_end": null,
"cdna_length": 8810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2741C>A",
"hgvs_p": "p.Pro914His",
"transcript": "NM_001385334.1",
"protein_id": "NP_001372263.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 924,
"cds_start": 2741,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3192,
"cdna_end": null,
"cdna_length": 8848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2741C>A",
"hgvs_p": "p.Pro914His",
"transcript": "NM_001385336.1",
"protein_id": "NP_001372265.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 924,
"cds_start": 2741,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3250,
"cdna_end": null,
"cdna_length": 8906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2741C>A",
"hgvs_p": "p.Pro914His",
"transcript": "NM_001385338.1",
"protein_id": "NP_001372267.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 924,
"cds_start": 2741,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3230,
"cdna_end": null,
"cdna_length": 8886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2741C>A",
"hgvs_p": "p.Pro914His",
"transcript": "NM_001385341.1",
"protein_id": "NP_001372270.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 924,
"cds_start": 2741,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 8783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2741C>A",
"hgvs_p": "p.Pro914His",
"transcript": "NM_001385342.1",
"protein_id": "NP_001372271.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 924,
"cds_start": 2741,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3063,
"cdna_end": null,
"cdna_length": 8719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2741C>A",
"hgvs_p": "p.Pro914His",
"transcript": "NM_001385344.1",
"protein_id": "NP_001372273.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 924,
"cds_start": 2741,
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"cdna_start": 3291,
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"cdna_length": 8947,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2741C>A",
"hgvs_p": "p.Pro914His",
"transcript": "NM_003866.3",
"protein_id": "NP_003857.2",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 924,
"cds_start": 2741,
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"cds_length": 2775,
"cdna_start": 3420,
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"cdna_length": 9076,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2336C>A",
"hgvs_p": "p.Pro779His",
"transcript": "NM_001385351.1",
"protein_id": "NP_001372280.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
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"cds_start": 2336,
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"cdna_start": 2877,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2213C>A",
"hgvs_p": "p.Pro738His",
"transcript": "NM_001385455.1",
"protein_id": "NP_001372384.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 748,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2754,
"cdna_end": null,
"cdna_length": 8410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2213C>A",
"hgvs_p": "p.Pro738His",
"transcript": "ENST00000850954.1",
"protein_id": "ENSP00000521038.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2210C>A",
"hgvs_p": "p.Pro737His",
"transcript": "NM_001385382.1",
"protein_id": "NP_001372311.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 747,
"cds_start": 2210,
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"cdna_start": 2751,
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"cdna_length": 8407,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2186C>A",
"hgvs_p": "p.Pro729His",
"transcript": "NM_001385350.1",
"protein_id": "NP_001372279.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 739,
"cds_start": 2186,
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"cdna_start": 2695,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2186C>A",
"hgvs_p": "p.Pro729His",
"transcript": "NM_001385379.1",
"protein_id": "NP_001372308.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2186C>A",
"hgvs_p": "p.Pro729His",
"transcript": "NM_001385383.1",
"protein_id": "NP_001372312.1",
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},
{
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"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2186C>A",
"hgvs_p": "p.Pro729His",
"transcript": "NM_001385457.1",
"protein_id": "NP_001372386.1",
"transcript_support_level": null,
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"cds_start": 2186,
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"cdna_start": 2386,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2186C>A",
"hgvs_p": "p.Pro729His",
"transcript": "NM_001385461.1",
"protein_id": "NP_001372390.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 739,
"cds_start": 2186,
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"cdna_start": 2565,
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"cdna_length": 8221,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}