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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-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119827370&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 119827370,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001441000.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn997Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000650623.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014937.4"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn997Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014937.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650623.2"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn1004Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441000.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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.3010A>T",
"hgvs_p": "p.Asn1004Tyr",
"transcript": "ENST00000964566.1",
"protein_id": "ENSP00000634625.1",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3010,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964566.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn980Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441001.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn979Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441002.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn978Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441003.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn978Tyr",
"transcript": "ENST00000895117.1",
"protein_id": "ENSP00000565176.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2932,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895117.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn973Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441004.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn970Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441005.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn954Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441006.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn954Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441007.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn954Tyr",
"transcript": "ENST00000895118.1",
"protein_id": "ENSP00000565177.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2860,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895118.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn954Tyr",
"transcript": "ENST00000964567.1",
"protein_id": "ENSP00000634626.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2860,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964567.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn940Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441008.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn935Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648262.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn901Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441009.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn901Tyr",
"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,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441010.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn901Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441011.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn901Tyr",
"transcript": "NM_001441012.1",
"protein_id": "NP_001427941.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2701,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441012.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn901Tyr",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441013.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"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>T",
"hgvs_p": "p.Asn901Tyr",
"transcript": "ENST00000647699.1",
"protein_id": "ENSP00000497772.1",
"transcript_support_level": null,
"aa_start": 901,
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}
],
"message": null
}