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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: 1-19656882-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=19656882&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 19656882,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_182744.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "NM_005380.8",
"protein_id": "NP_005371.2",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375136.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005380.8"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "ENST00000375136.8",
"protein_id": "ENSP00000364278.4",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005380.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375136.8"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.401C>A",
"hgvs_p": "p.Pro134Gln",
"transcript": "ENST00000615215.4",
"protein_id": "ENSP00000478223.1",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 215,
"cds_start": 401,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615215.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "ENST00000618761.4",
"protein_id": "ENSP00000483061.1",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618761.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "ENST00000425400.5",
"protein_id": "ENSP00000400250.1",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 115,
"cds_start": 299,
"cds_end": null,
"cds_length": 350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425400.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "n.*751C>A",
"hgvs_p": null,
"transcript": "ENST00000602384.5",
"protein_id": "ENSP00000473550.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000602384.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "n.*751C>A",
"hgvs_p": null,
"transcript": "ENST00000602384.5",
"protein_id": "ENSP00000473550.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000602384.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.404C>A",
"hgvs_p": "p.Pro135Gln",
"transcript": "NM_182744.4",
"protein_id": "NP_877421.2",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 216,
"cds_start": 404,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182744.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.404C>A",
"hgvs_p": "p.Pro135Gln",
"transcript": "ENST00000289749.6",
"protein_id": "ENSP00000289749.2",
"transcript_support_level": 2,
"aa_start": 135,
"aa_end": null,
"aa_length": 216,
"cds_start": 404,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289749.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.401C>A",
"hgvs_p": "p.Pro134Gln",
"transcript": "NM_001204086.3",
"protein_id": "NP_001191015.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 215,
"cds_start": 401,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204086.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Pro114Gln",
"transcript": "NM_001204088.2",
"protein_id": "NP_001191017.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 195,
"cds_start": 341,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204088.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "NM_001204084.3",
"protein_id": "NP_001191013.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204084.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "NM_001204085.2",
"protein_id": "NP_001191014.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204085.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "NM_001204089.2",
"protein_id": "NP_001191018.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204089.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "NM_001278164.2",
"protein_id": "NP_001265093.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278164.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "NM_001278165.2",
"protein_id": "NP_001265094.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278165.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "NM_001278166.2",
"protein_id": "NP_001265095.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278166.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "ENST00000548815.2",
"protein_id": "ENSP00000449007.2",
"transcript_support_level": 3,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548815.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "ENST00000602662.1",
"protein_id": "ENSP00000473411.1",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602662.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "ENST00000621723.4",
"protein_id": "ENSP00000478885.1",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621723.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "ENST00000622566.4",
"protein_id": "ENSP00000480391.1",
"transcript_support_level": 4,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622566.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100Gln",
"transcript": "ENST00000899516.1",
"protein_id": "ENSP00000569575.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899516.1"
},
{
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}