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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: 18-21518140-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=21518140&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 21518140,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001410867.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5378T>G",
"hgvs_p": "p.Leu1793Arg",
"transcript": "NM_001142966.3",
"protein_id": "NP_001136438.1",
"transcript_support_level": null,
"aa_start": 1793,
"aa_end": null,
"aa_length": 1923,
"cds_start": 5378,
"cds_end": null,
"cds_length": 5772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000424526.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142966.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5378T>G",
"hgvs_p": "p.Leu1793Arg",
"transcript": "ENST00000424526.7",
"protein_id": "ENSP00000412060.1",
"transcript_support_level": 5,
"aa_start": 1793,
"aa_end": null,
"aa_length": 1923,
"cds_start": 5378,
"cds_end": null,
"cds_length": 5772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142966.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424526.7"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5510T>G",
"hgvs_p": "p.Leu1837Arg",
"transcript": "ENST00000861016.1",
"protein_id": "ENSP00000531075.1",
"transcript_support_level": null,
"aa_start": 1837,
"aa_end": null,
"aa_length": 1967,
"cds_start": 5510,
"cds_end": null,
"cds_length": 5904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861016.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5507T>G",
"hgvs_p": "p.Leu1836Arg",
"transcript": "NM_001410867.1",
"protein_id": "NP_001397796.1",
"transcript_support_level": null,
"aa_start": 1836,
"aa_end": null,
"aa_length": 1966,
"cds_start": 5507,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410867.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5507T>G",
"hgvs_p": "p.Leu1836Arg",
"transcript": "ENST00000579454.2",
"protein_id": "ENSP00000463926.2",
"transcript_support_level": 5,
"aa_start": 1836,
"aa_end": null,
"aa_length": 1966,
"cds_start": 5507,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579454.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5378T>G",
"hgvs_p": "p.Leu1793Arg",
"transcript": "ENST00000580732.6",
"protein_id": "ENSP00000464162.1",
"transcript_support_level": 5,
"aa_start": 1793,
"aa_end": null,
"aa_length": 1923,
"cds_start": 5378,
"cds_end": null,
"cds_length": 5772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580732.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5051T>G",
"hgvs_p": "p.Leu1684Arg",
"transcript": "NM_001410868.1",
"protein_id": "NP_001397797.1",
"transcript_support_level": null,
"aa_start": 1684,
"aa_end": null,
"aa_length": 1814,
"cds_start": 5051,
"cds_end": null,
"cds_length": 5445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410868.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5051T>G",
"hgvs_p": "p.Leu1684Arg",
"transcript": "ENST00000269218.10",
"protein_id": "ENSP00000269218.6",
"transcript_support_level": 5,
"aa_start": 1684,
"aa_end": null,
"aa_length": 1814,
"cds_start": 5051,
"cds_end": null,
"cds_length": 5445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269218.10"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5510T>G",
"hgvs_p": "p.Leu1837Arg",
"transcript": "XM_017025989.2",
"protein_id": "XP_016881478.1",
"transcript_support_level": null,
"aa_start": 1837,
"aa_end": null,
"aa_length": 1998,
"cds_start": 5510,
"cds_end": null,
"cds_length": 5997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025989.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5510T>G",
"hgvs_p": "p.Leu1837Arg",
"transcript": "XM_047437809.1",
"protein_id": "XP_047293765.1",
"transcript_support_level": null,
"aa_start": 1837,
"aa_end": null,
"aa_length": 1998,
"cds_start": 5510,
"cds_end": null,
"cds_length": 5997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437809.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5510T>G",
"hgvs_p": "p.Leu1837Arg",
"transcript": "XM_047437810.1",
"protein_id": "XP_047293766.1",
"transcript_support_level": null,
"aa_start": 1837,
"aa_end": null,
"aa_length": 1998,
"cds_start": 5510,
"cds_end": null,
"cds_length": 5997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437810.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5507T>G",
"hgvs_p": "p.Leu1836Arg",
"transcript": "XM_017025990.2",
"protein_id": "XP_016881479.1",
"transcript_support_level": null,
"aa_start": 1836,
"aa_end": null,
"aa_length": 1997,
"cds_start": 5507,
"cds_end": null,
"cds_length": 5994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025990.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5426T>G",
"hgvs_p": "p.Leu1809Arg",
"transcript": "XM_017025991.2",
"protein_id": "XP_016881480.1",
"transcript_support_level": null,
"aa_start": 1809,
"aa_end": null,
"aa_length": 1970,
"cds_start": 5426,
"cds_end": null,
"cds_length": 5913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025991.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5423T>G",
"hgvs_p": "p.Leu1808Arg",
"transcript": "XM_047437811.1",
"protein_id": "XP_047293767.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 1969,
"cds_start": 5423,
"cds_end": null,
"cds_length": 5910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437811.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5510T>G",
"hgvs_p": "p.Leu1837Arg",
"transcript": "XM_006722547.4",
"protein_id": "XP_006722610.1",
"transcript_support_level": null,
"aa_start": 1837,
"aa_end": null,
"aa_length": 1967,
"cds_start": 5510,
"cds_end": null,
"cds_length": 5904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722547.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5381T>G",
"hgvs_p": "p.Leu1794Arg",
"transcript": "XM_017025993.2",
"protein_id": "XP_016881482.1",
"transcript_support_level": null,
"aa_start": 1794,
"aa_end": null,
"aa_length": 1955,
"cds_start": 5381,
"cds_end": null,
"cds_length": 5868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025993.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5381T>G",
"hgvs_p": "p.Leu1794Arg",
"transcript": "XM_047437813.1",
"protein_id": "XP_047293769.1",
"transcript_support_level": null,
"aa_start": 1794,
"aa_end": null,
"aa_length": 1955,
"cds_start": 5381,
"cds_end": null,
"cds_length": 5868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437813.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5381T>G",
"hgvs_p": "p.Leu1794Arg",
"transcript": "XM_047437814.1",
"protein_id": "XP_047293770.1",
"transcript_support_level": null,
"aa_start": 1794,
"aa_end": null,
"aa_length": 1955,
"cds_start": 5381,
"cds_end": null,
"cds_length": 5868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437814.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5378T>G",
"hgvs_p": "p.Leu1793Arg",
"transcript": "XM_047437815.1",
"protein_id": "XP_047293771.1",
"transcript_support_level": null,
"aa_start": 1793,
"aa_end": null,
"aa_length": 1954,
"cds_start": 5378,
"cds_end": null,
"cds_length": 5865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437815.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5423T>G",
"hgvs_p": "p.Leu1808Arg",
"transcript": "XM_047437816.1",
"protein_id": "XP_047293772.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 1938,
"cds_start": 5423,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437816.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5297T>G",
"hgvs_p": "p.Leu1766Arg",
"transcript": "XM_047437817.1",
"protein_id": "XP_047293773.1",
"transcript_support_level": null,
"aa_start": 1766,
"aa_end": null,
"aa_length": 1927,
"cds_start": 5297,
"cds_end": null,
"cds_length": 5784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437817.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.5381T>G",
"hgvs_p": "p.Leu1794Arg",
"transcript": "XM_047437818.1",
"protein_id": "XP_047293774.1",
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"phenotype_combined": "Renal hypodysplasia/aplasia 3|not provided",
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}
],
"message": null
}