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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: 11-72225034-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72225034&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72225034,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001440434.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "NM_001567.4",
"protein_id": "NP_001558.3",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1258,
"cds_start": 50,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298229.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001567.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000298229.7",
"protein_id": "ENSP00000298229.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 1258,
"cds_start": 50,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001567.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298229.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "NM_001440434.1",
"protein_id": "NP_001427363.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1280,
"cds_start": 50,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440434.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000924957.1",
"protein_id": "ENSP00000595016.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1263,
"cds_start": 50,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924957.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000946902.1",
"protein_id": "ENSP00000616961.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1263,
"cds_start": 50,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946902.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "NM_001440435.1",
"protein_id": "NP_001427364.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1258,
"cds_start": 50,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440435.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "NM_001440436.1",
"protein_id": "NP_001427365.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1258,
"cds_start": 50,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440436.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000924950.1",
"protein_id": "ENSP00000595009.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1258,
"cds_start": 50,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924950.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000924951.1",
"protein_id": "ENSP00000595010.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1258,
"cds_start": 50,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924951.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000924952.1",
"protein_id": "ENSP00000595011.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1258,
"cds_start": 50,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924952.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000924955.1",
"protein_id": "ENSP00000595014.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1258,
"cds_start": 50,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924955.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000924956.1",
"protein_id": "ENSP00000595015.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1258,
"cds_start": 50,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924956.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000924958.1",
"protein_id": "ENSP00000595017.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1258,
"cds_start": 50,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924958.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000946903.1",
"protein_id": "ENSP00000616962.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1258,
"cds_start": 50,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946903.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000946904.1",
"protein_id": "ENSP00000616963.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1258,
"cds_start": 50,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946904.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000924960.1",
"protein_id": "ENSP00000595019.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1257,
"cds_start": 50,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924960.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000924953.1",
"protein_id": "ENSP00000595012.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1241,
"cds_start": 50,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924953.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000924954.1",
"protein_id": "ENSP00000595013.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1241,
"cds_start": 50,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924954.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000924959.1",
"protein_id": "ENSP00000595018.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1241,
"cds_start": 50,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924959.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "NM_001440437.1",
"protein_id": "NP_001427366.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1211,
"cds_start": 50,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440437.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "NM_001440438.1",
"protein_id": "NP_001427367.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1184,
"cds_start": 50,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440438.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPPL1",
"gene_hgnc_id": 6080,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Gln17Arg",
"transcript": "ENST00000540973.1",
"protein_id": "ENSP00000440904.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 21,
"cds_start": 50,
"cds_end": null,
"cds_length": 67,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
],
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}