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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: 1-247436053-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=247436053&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 247436053,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000336119.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2576A>C",
"hgvs_p": "p.Tyr859Ser",
"transcript": "NM_001243133.2",
"protein_id": "NP_001230062.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2576,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 3345,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": "ENST00000336119.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2576A>C",
"hgvs_p": "p.Tyr859Ser",
"transcript": "ENST00000336119.8",
"protein_id": "ENSP00000337383.4",
"transcript_support_level": 1,
"aa_start": 859,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2576,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 3345,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": "NM_001243133.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2576A>C",
"hgvs_p": "p.Tyr859Ser",
"transcript": "ENST00000391828.8",
"protein_id": "ENSP00000375704.4",
"transcript_support_level": 1,
"aa_start": 859,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2576,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 2720,
"cdna_end": null,
"cdna_length": 3853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2405A>C",
"hgvs_p": "p.Tyr802Ser",
"transcript": "ENST00000391827.3",
"protein_id": "ENSP00000375703.3",
"transcript_support_level": 1,
"aa_start": 802,
"aa_end": null,
"aa_length": 977,
"cds_start": 2405,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 3175,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2492+1780A>C",
"hgvs_p": null,
"transcript": "ENST00000366496.7",
"protein_id": "ENSP00000355452.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2321+1780A>C",
"hgvs_p": null,
"transcript": "ENST00000348069.7",
"protein_id": "ENSP00000294752.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": -4,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2582A>C",
"hgvs_p": "p.Tyr861Ser",
"transcript": "NM_004895.5",
"protein_id": "NP_004886.3",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 3345,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2576A>C",
"hgvs_p": "p.Tyr859Ser",
"transcript": "NM_001079821.3",
"protein_id": "NP_001073289.2",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2576,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 3545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2576A>C",
"hgvs_p": "p.Tyr859Ser",
"transcript": "ENST00000697350.1",
"protein_id": "ENSP00000513275.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2576,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 2813,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2516A>C",
"hgvs_p": "p.Tyr839Ser",
"transcript": "ENST00000643234.2",
"protein_id": "ENSP00000493674.2",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2516,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2405A>C",
"hgvs_p": "p.Tyr802Ser",
"transcript": "NM_001127462.3",
"protein_id": "NP_001120934.2",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 977,
"cds_start": 2405,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2582A>C",
"hgvs_p": "p.Tyr861Ser",
"transcript": "XM_017000181.2",
"protein_id": "XP_016855670.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2582A>C",
"hgvs_p": "p.Tyr861Ser",
"transcript": "XM_017000182.2",
"protein_id": "XP_016855671.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2582A>C",
"hgvs_p": "p.Tyr861Ser",
"transcript": "XM_047443533.1",
"protein_id": "XP_047299489.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 3001,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2582A>C",
"hgvs_p": "p.Tyr861Ser",
"transcript": "XM_047443534.1",
"protein_id": "XP_047299490.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 3958,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2582A>C",
"hgvs_p": "p.Tyr861Ser",
"transcript": "XM_047443535.1",
"protein_id": "XP_047299491.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2582,
"cds_end": null,
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"cdna_start": 3344,
"cdna_end": null,
"cdna_length": 4186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2582A>C",
"hgvs_p": "p.Tyr861Ser",
"transcript": "XM_047443539.1",
"protein_id": "XP_047299495.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2411A>C",
"hgvs_p": "p.Tyr804Ser",
"transcript": "XM_047443546.1",
"protein_id": "XP_047299502.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 979,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2830,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2411A>C",
"hgvs_p": "p.Tyr804Ser",
"transcript": "XM_047443562.1",
"protein_id": "XP_047299518.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 979,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2708,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "n.*593A>C",
"hgvs_p": null,
"transcript": "ENST00000642259.1",
"protein_id": "ENSP00000494332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "n.*593A>C",
"hgvs_p": null,
"transcript": "ENST00000642259.1",
"protein_id": "ENSP00000494332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.2492+1780A>C",
"hgvs_p": null,
"transcript": "NM_001127461.3",
"protein_id": "NP_001120933.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
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{
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],
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"phenotype_combined": "Cryopyrin associated periodic syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}