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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: 1-247424386-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=247424386&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 247424386,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004895.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "NM_001243133.2",
"protein_id": "NP_001230062.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 1034,
"cds_start": 937,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336119.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243133.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "ENST00000336119.8",
"protein_id": "ENSP00000337383.4",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 1034,
"cds_start": 937,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001243133.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336119.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "ENST00000391828.8",
"protein_id": "ENSP00000375704.4",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 1034,
"cds_start": 937,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391828.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "ENST00000366496.7",
"protein_id": "ENSP00000355452.3",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 977,
"cds_start": 937,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366496.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "ENST00000391827.3",
"protein_id": "ENSP00000375703.3",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 977,
"cds_start": 937,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391827.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "ENST00000348069.7",
"protein_id": "ENSP00000294752.4",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 920,
"cds_start": 937,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348069.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.943A>G",
"hgvs_p": "p.Ile315Val",
"transcript": "NM_004895.5",
"protein_id": "NP_004886.3",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 1036,
"cds_start": 943,
"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_004895.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "NM_001079821.3",
"protein_id": "NP_001073289.2",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 1034,
"cds_start": 937,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079821.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "ENST00000697350.1",
"protein_id": "ENSP00000513275.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 1034,
"cds_start": 937,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697350.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "ENST00000898449.1",
"protein_id": "ENSP00000568508.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 1034,
"cds_start": 937,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898449.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "ENST00000643234.2",
"protein_id": "ENSP00000493674.2",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 1014,
"cds_start": 937,
"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": "ENST00000643234.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "NM_001127461.3",
"protein_id": "NP_001120933.2",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 977,
"cds_start": 937,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127461.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "NM_001127462.3",
"protein_id": "NP_001120934.2",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 977,
"cds_start": 937,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127462.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "ENST00000697408.2",
"protein_id": "ENSP00000520480.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 977,
"cds_start": 937,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697408.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "ENST00000898450.1",
"protein_id": "ENSP00000568509.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 977,
"cds_start": 937,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898450.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "NM_183395.3",
"protein_id": "NP_899632.2",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 920,
"cds_start": 937,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183395.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "ENST00000959505.1",
"protein_id": "ENSP00000629564.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 863,
"cds_start": 937,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959505.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Ile313Val",
"transcript": "ENST00000474792.2",
"protein_id": "ENSP00000493937.2",
"transcript_support_level": 2,
"aa_start": 313,
"aa_end": null,
"aa_length": 717,
"cds_start": 937,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474792.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.943A>G",
"hgvs_p": "p.Ile315Val",
"transcript": "XM_017000181.2",
"protein_id": "XP_016855670.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 1036,
"cds_start": 943,
"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": "XM_017000181.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.943A>G",
"hgvs_p": "p.Ile315Val",
"transcript": "XM_017000182.2",
"protein_id": "XP_016855671.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 1036,
"cds_start": 943,
"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": "XM_017000182.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.943A>G",
"hgvs_p": "p.Ile315Val",
"transcript": "XM_047443533.1",
"protein_id": "XP_047299489.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 1036,
"cds_start": 943,
"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": "XM_047443533.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.943A>G",
"hgvs_p": "p.Ile315Val",
"transcript": "XM_047443534.1",
"protein_id": "XP_047299490.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 1036,
"cds_start": 943,
"cds_end": null,
"cds_length": 3111,
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:6 LB:1 B:3 O:1",
"phenotype_combined": "Familial cold autoinflammatory syndrome 1|not provided|Cryopyrin associated periodic syndrome|Autoinflammatory syndrome|Inborn genetic diseases|Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness|not specified|Familial amyloid nephropathy with urticaria AND deafness|Chronic infantile neurological, cutaneous and articular syndrome",
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}
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}