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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: 10-119781719-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119781719&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 119781719,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001441000.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "NM_014937.4",
"protein_id": "NP_055752.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1132,
"cds_start": 263,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000650623.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014937.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "ENST00000650623.2",
"protein_id": "ENSP00000497527.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1132,
"cds_start": 263,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014937.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650623.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "ENST00000369081.3",
"protein_id": "ENSP00000489864.1",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 219,
"cds_start": 263,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369081.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "NM_001441000.1",
"protein_id": "NP_001427929.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1139,
"cds_start": 263,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441000.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "ENST00000964566.1",
"protein_id": "ENSP00000634625.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1139,
"cds_start": 263,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964566.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Lys71Arg",
"transcript": "NM_001441001.1",
"protein_id": "NP_001427930.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 1115,
"cds_start": 212,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441001.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "NM_001441003.1",
"protein_id": "NP_001427932.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1113,
"cds_start": 263,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441003.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "ENST00000895117.1",
"protein_id": "ENSP00000565176.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1113,
"cds_start": 263,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895117.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "NM_001441004.1",
"protein_id": "NP_001427933.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1108,
"cds_start": 263,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441004.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.182A>G",
"hgvs_p": "p.Lys61Arg",
"transcript": "NM_001441005.1",
"protein_id": "NP_001427934.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1105,
"cds_start": 182,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441005.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "NM_001441006.1",
"protein_id": "NP_001427935.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1089,
"cds_start": 263,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441006.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "NM_001441007.1",
"protein_id": "NP_001427936.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1089,
"cds_start": 263,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441007.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "ENST00000895118.1",
"protein_id": "ENSP00000565177.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1089,
"cds_start": 263,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895118.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "ENST00000964567.1",
"protein_id": "ENSP00000634626.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1089,
"cds_start": 263,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964567.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "NM_001441008.1",
"protein_id": "NP_001427937.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1075,
"cds_start": 263,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441008.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "ENST00000648262.1",
"protein_id": "ENSP00000496843.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1070,
"cds_start": 263,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648262.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "NM_001441014.1",
"protein_id": "NP_001427943.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1014,
"cds_start": 263,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441014.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "ENST00000895116.1",
"protein_id": "ENSP00000565175.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1014,
"cds_start": 263,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895116.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "NM_001441018.1",
"protein_id": "NP_001427947.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 763,
"cds_start": 263,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441018.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "NM_001441019.1",
"protein_id": "NP_001427948.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 757,
"cds_start": 263,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441019.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "NM_001441020.1",
"protein_id": "NP_001427949.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 747,
"cds_start": 263,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441020.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5F",
"gene_hgnc_id": 17054,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg",
"transcript": "ENST00000649251.1",
"protein_id": "ENSP00000497368.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 747,
"cds_start": 263,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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{
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{
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{
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{
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{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "INPP5F",
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"transcript": "ENST00000648661.1",
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],
"gene_symbol": "INPP5F",
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"dbsnp": "rs760665197",
"frequency_reference_population": 0.0000047943827,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000479438,
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"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22464147210121155,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.0933,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.644,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001441000.1",
"gene_symbol": "INPP5F",
"hgnc_id": 17054,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Lys88Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}